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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1387395621

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:43645252-43645253 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
delT
Variation Type
Indel Insertion and Deletion
Frequency
delT=0.000015 (4/264690, TOPMED)
delT=0.000007 (1/140160, GnomAD)
delT=0.00007 (1/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COA1 : Frameshift Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 TT=0.99993 T=0.00007 0.999858 0.0 0.000142 0
European Sub 9690 TT=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 TT=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 TT=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 TT=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 TT=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 TT=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 TT=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 TT=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 TT=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 TT=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 TT=0.998 T=0.002 0.995968 0.0 0.004032 0


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 TT=0.999985 delT=0.000015
gnomAD - Genomes Global Study-wide 140160 TT=0.999993 delT=0.000007
gnomAD - Genomes European Sub 75902 TT=1.00000 delT=0.00000
gnomAD - Genomes African Sub 42000 TT=0.99998 delT=0.00002
gnomAD - Genomes American Sub 13652 TT=1.00000 delT=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 TT=1.0000 delT=0.0000
gnomAD - Genomes East Asian Sub 3132 TT=1.0000 delT=0.0000
gnomAD - Genomes Other Sub 2150 TT=1.0000 delT=0.0000
Allele Frequency Aggregator Total Global 14050 TT=0.99993 delT=0.00007
Allele Frequency Aggregator European Sub 9690 TT=1.0000 delT=0.0000
Allele Frequency Aggregator African Sub 2898 TT=1.0000 delT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 TT=1.000 delT=0.000
Allele Frequency Aggregator Other Sub 496 TT=0.998 delT=0.002
Allele Frequency Aggregator Latin American 1 Sub 146 TT=1.000 delT=0.000
Allele Frequency Aggregator Asian Sub 112 TT=1.000 delT=0.000
Allele Frequency Aggregator South Asian Sub 98 TT=1.00 delT=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 7 NC_000007.14:g.43645253del
GRCh37.p13 chr 7 NC_000007.13:g.43684852del
Gene: COA1, cytochrome c oxidase assembly factor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
COA1 transcript variant 8 NM_001321202.2:c. N/A Genic Downstream Transcript Variant
COA1 transcript variant 9 NM_001321203.2:c. N/A Genic Downstream Transcript Variant
COA1 transcript variant 10 NM_001321204.2:c. N/A Genic Downstream Transcript Variant
COA1 transcript variant 11 NM_001321205.2:c. N/A Genic Downstream Transcript Variant
COA1 transcript variant 38 NM_001371318.1:c.251del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform e NP_001358247.1:p.Lys84fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 37 NM_001371317.1:c.245del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform d NP_001358246.1:p.Lys82fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 36 NM_001371316.1:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358245.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 35 NM_001371315.1:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358244.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 34 NM_001371314.1:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358243.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 32 NM_001371312.1:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358241.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 33 NM_001371313.1:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358242.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 31 NM_001371311.1:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358240.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 30 NM_001371310.1:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358239.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 29 NM_001371309.1:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358238.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 28 NM_001371308.1:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358237.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 27 NM_001371307.1:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358236.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 17 NM_001350925.2:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001337854.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 7 NM_001321201.2:c.227del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform b NP_001308130.1:p.Lys76fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 5 NM_001321199.2:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001308128.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 1 NM_018224.4:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_060694.2:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 18 NM_001350926.2:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001337855.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 3 NM_001321197.2:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001308126.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 20 NM_001350928.2:c.245del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform d NP_001337857.1:p.Lys82fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 6 NM_001321200.2:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001308129.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 16 NM_001350924.2:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001337853.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 4 NM_001321198.2:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001308127.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 19 NM_001350927.2:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001337856.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant 24 NR_146943.2:n.389del N/A Non Coding Transcript Variant
COA1 transcript variant 23 NR_146942.2:n.461del N/A Non Coding Transcript Variant
COA1 transcript variant 22 NR_146941.2:n.511del N/A Non Coding Transcript Variant
COA1 transcript variant 25 NR_146944.2:n.461del N/A Non Coding Transcript Variant
COA1 transcript variant 26 NR_146945.2:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant 42 NR_163918.1:n.446del N/A Non Coding Transcript Variant
COA1 transcript variant 43 NR_163919.1:n.497del N/A Non Coding Transcript Variant
COA1 transcript variant 39 NR_163915.1:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant 40 NR_163916.1:n.461del N/A Non Coding Transcript Variant
COA1 transcript variant 41 NR_163917.1:n.461del N/A Non Coding Transcript Variant
COA1 transcript variant 2 NR_163914.1:n.461del N/A Non Coding Transcript Variant
COA1 transcript variant 12 NR_135580.2:n.497del N/A Non Coding Transcript Variant
COA1 transcript variant 15 NR_135583.2:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant 13 NR_135581.2:n.497del N/A Non Coding Transcript Variant
COA1 transcript variant 14 NR_135582.2:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant 21 NR_146940.2:n. N/A Intron Variant
COA1 transcript variant X11 XM_047420603.1:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform X1 XP_047276559.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant X13 XM_047420604.1:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform X1 XP_047276560.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant X16 XM_047420605.1:c.263del K [AAG] > S [AG] Coding Sequence Variant
cytochrome c oxidase assembly factor 1 homolog isoform X1 XP_047276561.1:p.Lys88fs K (Lys) > S (Ser) Frameshift Variant
COA1 transcript variant X1 XR_007060076.1:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant X2 XR_007060077.1:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant X3 XR_007060078.1:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant X4 XR_007060079.1:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant X5 XR_007060080.1:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant X6 XR_007060081.1:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant X7 XR_007060082.1:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant X8 XR_007060083.1:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant X9 XR_007060084.1:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant X10 XR_007060085.1:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant X12 XR_007060086.1:n.396del N/A Non Coding Transcript Variant
COA1 transcript variant X14 XR_007060087.1:n.497del N/A Non Coding Transcript Variant
COA1 transcript variant X15 XR_007060088.1:n.616del N/A Non Coding Transcript Variant
COA1 transcript variant X17 XR_007060089.1:n.1670del N/A Non Coding Transcript Variant
COA1 transcript variant X18 XR_007060090.1:n.618del N/A Non Coding Transcript Variant
COA1 transcript variant X19 XR_007060091.1:n.467del N/A Non Coding Transcript Variant
COA1 transcript variant X20 XR_007060092.1:n.737del N/A Non Coding Transcript Variant
COA1 transcript variant X21 XR_007060093.1:n.497del N/A Non Coding Transcript Variant
COA1 transcript variant X22 XR_007060094.1:n.426del N/A Non Coding Transcript Variant
COA1 transcript variant X23 XR_007060095.1:n.517del N/A Non Coding Transcript Variant
COA1 transcript variant X24 XR_007060096.1:n.616del N/A Non Coding Transcript Variant
COA1 transcript variant X25 XR_007060097.1:n.497del N/A Non Coding Transcript Variant
COA1 transcript variant X26 XR_007060098.1:n.616del N/A Non Coding Transcript Variant
COA1 transcript variant X27 XR_007060099.1:n.586del N/A Non Coding Transcript Variant
COA1 transcript variant X28 XR_007060100.1:n.616del N/A Non Coding Transcript Variant
COA1 transcript variant X29 XR_007060101.1:n.420del N/A Non Coding Transcript Variant
COA1 transcript variant X30 XR_007060102.1:n.616del N/A Non Coding Transcript Variant
COA1 transcript variant X31 XR_007060103.1:n.446del N/A Non Coding Transcript Variant
COA1 transcript variant X32 XR_007060104.1:n.366del N/A Non Coding Transcript Variant
COA1 transcript variant X33 XR_007060105.1:n.497del N/A Non Coding Transcript Variant
COA1 transcript variant X34 XR_007060106.1:n.1670del N/A Non Coding Transcript Variant
COA1 transcript variant X35 XR_007060107.1:n.618del N/A Non Coding Transcript Variant
COA1 transcript variant X36 XR_007060108.1:n.791del N/A Non Coding Transcript Variant
COA1 transcript variant X37 XR_007060109.1:n.517del N/A Non Coding Transcript Variant
COA1 transcript variant X38 XR_007060110.1:n.467del N/A Non Coding Transcript Variant
COA1 transcript variant X39 XR_007060111.1:n.737del N/A Non Coding Transcript Variant
COA1 transcript variant X40 XR_007060112.1:n.618del N/A Non Coding Transcript Variant
COA1 transcript variant X41 XR_007060113.1:n.642del N/A Non Coding Transcript Variant
COA1 transcript variant X42 XR_007060114.1:n.467del N/A Non Coding Transcript Variant
COA1 transcript variant X43 XR_007060115.1:n.601del N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement TT= delT
GRCh38.p14 chr 7 NC_000007.14:g.43645252_43645253= NC_000007.14:g.43645253del
GRCh37.p13 chr 7 NC_000007.13:g.43684851_43684852= NC_000007.13:g.43684852del
COA1 transcript variant 1 NM_018224.4:c.262_263= NM_018224.4:c.263del
COA1 transcript variant 1 NM_018224.3:c.262_263= NM_018224.3:c.263del
COA1 transcript variant 22 NR_146941.2:n.510_511= NR_146941.2:n.511del
COA1 transcript variant 22 NR_146941.1:n.528_529= NR_146941.1:n.529del
COA1 transcript variant 15 NR_135583.2:n.395_396= NR_135583.2:n.396del
COA1 transcript variant 15 NR_135583.1:n.413_414= NR_135583.1:n.414del
COA1 transcript variant 2 NR_047701.2:n.460_461= NR_047701.2:n.461del
COA1 transcript variant 12 NR_135580.2:n.496_497= NR_135580.2:n.497del
COA1 transcript variant 12 NR_135580.1:n.514_515= NR_135580.1:n.515del
COA1 transcript variant 13 NR_135581.2:n.496_497= NR_135581.2:n.497del
COA1 transcript variant 13 NR_135581.1:n.514_515= NR_135581.1:n.515del
COA1 transcript variant 25 NR_146944.2:n.460_461= NR_146944.2:n.461del
COA1 transcript variant 25 NR_146944.1:n.478_479= NR_146944.1:n.479del
COA1 transcript variant 14 NR_135582.2:n.395_396= NR_135582.2:n.396del
COA1 transcript variant 14 NR_135582.1:n.413_414= NR_135582.1:n.414del
COA1 transcript variant 24 NR_146943.2:n.388_389= NR_146943.2:n.389del
COA1 transcript variant 24 NR_146943.1:n.406_407= NR_146943.1:n.407del
COA1 transcript variant 23 NR_146942.2:n.460_461= NR_146942.2:n.461del
COA1 transcript variant 23 NR_146942.1:n.478_479= NR_146942.1:n.479del
COA1 transcript variant 26 NR_146945.2:n.395_396= NR_146945.2:n.396del
COA1 transcript variant 26 NR_146945.1:n.413_414= NR_146945.1:n.414del
COA1 transcript variant 19 NM_001350927.2:c.262_263= NM_001350927.2:c.263del
COA1 transcript variant 19 NM_001350927.1:c.262_263= NM_001350927.1:c.263del
COA1 transcript variant 3 NM_001321197.2:c.262_263= NM_001321197.2:c.263del
COA1 transcript variant 3 NM_001321197.1:c.262_263= NM_001321197.1:c.263del
COA1 transcript variant 16 NM_001350924.2:c.262_263= NM_001350924.2:c.263del
COA1 transcript variant 16 NM_001350924.1:c.262_263= NM_001350924.1:c.263del
COA1 transcript variant 18 NM_001350926.2:c.262_263= NM_001350926.2:c.263del
COA1 transcript variant 18 NM_001350926.1:c.262_263= NM_001350926.1:c.263del
COA1 transcript variant 6 NM_001321200.2:c.262_263= NM_001321200.2:c.263del
COA1 transcript variant 6 NM_001321200.1:c.262_263= NM_001321200.1:c.263del
COA1 transcript variant 4 NM_001321198.2:c.262_263= NM_001321198.2:c.263del
COA1 transcript variant 4 NM_001321198.1:c.262_263= NM_001321198.1:c.263del
COA1 transcript variant 5 NM_001321199.2:c.262_263= NM_001321199.2:c.263del
COA1 transcript variant 5 NM_001321199.1:c.262_263= NM_001321199.1:c.263del
COA1 transcript variant 17 NM_001350925.2:c.262_263= NM_001350925.2:c.263del
COA1 transcript variant 17 NM_001350925.1:c.262_263= NM_001350925.1:c.263del
COA1 transcript variant 20 NM_001350928.2:c.244_245= NM_001350928.2:c.245del
COA1 transcript variant 20 NM_001350928.1:c.244_245= NM_001350928.1:c.245del
COA1 transcript variant 7 NM_001321201.2:c.226_227= NM_001321201.2:c.227del
COA1 transcript variant 7 NM_001321201.1:c.226_227= NM_001321201.1:c.227del
COA1 transcript variant X17 XR_007060089.1:n.1669_1670= XR_007060089.1:n.1670del
COA1 transcript variant X20 XR_007060092.1:n.736_737= XR_007060092.1:n.737del
COA1 transcript variant X18 XR_007060090.1:n.617_618= XR_007060090.1:n.618del
COA1 transcript variant X15 XR_007060088.1:n.615_616= XR_007060088.1:n.616del
COA1 transcript variant X27 XR_007060099.1:n.585_586= XR_007060099.1:n.586del
COA1 transcript variant X23 XR_007060095.1:n.516_517= XR_007060095.1:n.517del
COA1 transcript variant X14 XR_007060087.1:n.496_497= XR_007060087.1:n.497del
COA1 transcript variant X19 XR_007060091.1:n.466_467= XR_007060091.1:n.467del
COA1 transcript variant X22 XR_007060094.1:n.425_426= XR_007060094.1:n.426del
COA1 transcript variant X29 XR_007060101.1:n.419_420= XR_007060101.1:n.420del
COA1 transcript variant X1 XR_007060076.1:n.395_396= XR_007060076.1:n.396del
COA1 transcript variant X24 XR_007060096.1:n.615_616= XR_007060096.1:n.616del
COA1 transcript variant X25 XR_007060097.1:n.496_497= XR_007060097.1:n.497del
COA1 transcript variant X34 XR_007060106.1:n.1669_1670= XR_007060106.1:n.1670del
COA1 transcript variant X31 XR_007060103.1:n.445_446= XR_007060103.1:n.446del
COA1 transcript variant X2 XR_007060077.1:n.395_396= XR_007060077.1:n.396del
COA1 transcript variant X32 XR_007060104.1:n.365_366= XR_007060104.1:n.366del
COA1 transcript variant X36 XR_007060108.1:n.790_791= XR_007060108.1:n.791del
COA1 transcript variant X28 XR_007060100.1:n.615_616= XR_007060100.1:n.616del
COA1 transcript variant X41 XR_007060113.1:n.641_642= XR_007060113.1:n.642del
COA1 transcript variant X33 XR_007060105.1:n.496_497= XR_007060105.1:n.497del
COA1 transcript variant X35 XR_007060107.1:n.617_618= XR_007060107.1:n.618del
COA1 transcript variant X26 XR_007060098.1:n.615_616= XR_007060098.1:n.616del
COA1 transcript variant X43 XR_007060115.1:n.600_601= XR_007060115.1:n.601del
COA1 transcript variant X6 XR_007060081.1:n.395_396= XR_007060081.1:n.396del
COA1 transcript variant X37 XR_007060109.1:n.516_517= XR_007060109.1:n.517del
COA1 transcript variant X21 XR_007060093.1:n.496_497= XR_007060093.1:n.497del
COA1 transcript variant X38 XR_007060110.1:n.466_467= XR_007060110.1:n.467del
COA1 transcript variant X4 XR_007060079.1:n.395_396= XR_007060079.1:n.396del
COA1 transcript variant X12 XR_007060086.1:n.395_396= XR_007060086.1:n.396del
COA1 transcript variant 40 NR_163916.1:n.460_461= NR_163916.1:n.461del
COA1 transcript variant 41 NR_163917.1:n.460_461= NR_163917.1:n.461del
COA1 transcript variant 42 NR_163918.1:n.445_446= NR_163918.1:n.446del
COA1 transcript variant 2 NR_163914.1:n.460_461= NR_163914.1:n.461del
COA1 transcript variant X5 XR_007060080.1:n.395_396= XR_007060080.1:n.396del
COA1 transcript variant X3 XR_007060078.1:n.395_396= XR_007060078.1:n.396del
COA1 transcript variant 2 NR_047701.1:n.478_479= NR_047701.1:n.479del
COA1 transcript variant X8 XR_007060083.1:n.395_396= XR_007060083.1:n.396del
COA1 transcript variant X7 XR_007060082.1:n.395_396= XR_007060082.1:n.396del
COA1 transcript variant X10 XR_007060085.1:n.395_396= XR_007060085.1:n.396del
COA1 transcript variant X13 XM_047420604.1:c.262_263= XM_047420604.1:c.263del
COA1 transcript variant X39 XR_007060111.1:n.736_737= XR_007060111.1:n.737del
COA1 transcript variant X40 XR_007060112.1:n.617_618= XR_007060112.1:n.618del
COA1 transcript variant X30 XR_007060102.1:n.615_616= XR_007060102.1:n.616del
COA1 transcript variant X42 XR_007060114.1:n.466_467= XR_007060114.1:n.467del
COA1 transcript variant X9 XR_007060084.1:n.395_396= XR_007060084.1:n.396del
COA1 transcript variant 27 NM_001371307.1:c.262_263= NM_001371307.1:c.263del
COA1 transcript variant X16 XM_047420605.1:c.262_263= XM_047420605.1:c.263del
COA1 transcript variant 32 NM_001371312.1:c.262_263= NM_001371312.1:c.263del
COA1 transcript variant 33 NM_001371313.1:c.262_263= NM_001371313.1:c.263del
COA1 transcript variant X11 XM_047420603.1:c.262_263= XM_047420603.1:c.263del
COA1 transcript variant 31 NM_001371311.1:c.262_263= NM_001371311.1:c.263del
COA1 transcript variant 35 NM_001371315.1:c.262_263= NM_001371315.1:c.263del
COA1 transcript variant 28 NM_001371308.1:c.262_263= NM_001371308.1:c.263del
COA1 transcript variant 36 NM_001371316.1:c.262_263= NM_001371316.1:c.263del
COA1 transcript variant 30 NM_001371310.1:c.262_263= NM_001371310.1:c.263del
COA1 transcript variant 34 NM_001371314.1:c.262_263= NM_001371314.1:c.263del
COA1 transcript variant 43 NR_163919.1:n.496_497= NR_163919.1:n.497del
COA1 transcript variant 37 NM_001371317.1:c.244_245= NM_001371317.1:c.245del
COA1 transcript variant 38 NM_001371318.1:c.250_251= NM_001371318.1:c.251del
COA1 transcript variant 29 NM_001371309.1:c.262_263= NM_001371309.1:c.263del
COA1 transcript variant 39 NR_163915.1:n.395_396= NR_163915.1:n.396del
cytochrome c oxidase assembly factor 1 homolog isoform a NP_060694.2:p.Lys88= NP_060694.2:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001337856.1:p.Lys88= NP_001337856.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001308126.1:p.Lys88= NP_001308126.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001337853.1:p.Lys88= NP_001337853.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001337855.1:p.Lys88= NP_001337855.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001308129.1:p.Lys88= NP_001308129.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001308127.1:p.Lys88= NP_001308127.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001308128.1:p.Lys88= NP_001308128.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001337854.1:p.Lys88= NP_001337854.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform d NP_001337857.1:p.Lys82= NP_001337857.1:p.Lys82fs
cytochrome c oxidase assembly factor 1 homolog isoform b NP_001308130.1:p.Lys76= NP_001308130.1:p.Lys76fs
cytochrome c oxidase assembly factor 1 homolog isoform X1 XP_047276560.1:p.Lys88= XP_047276560.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358236.1:p.Lys88= NP_001358236.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform X1 XP_047276561.1:p.Lys88= XP_047276561.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358241.1:p.Lys88= NP_001358241.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358242.1:p.Lys88= NP_001358242.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform X1 XP_047276559.1:p.Lys88= XP_047276559.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358240.1:p.Lys88= NP_001358240.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358244.1:p.Lys88= NP_001358244.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358237.1:p.Lys88= NP_001358237.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358245.1:p.Lys88= NP_001358245.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358239.1:p.Lys88= NP_001358239.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358243.1:p.Lys88= NP_001358243.1:p.Lys88fs
cytochrome c oxidase assembly factor 1 homolog isoform d NP_001358246.1:p.Lys82= NP_001358246.1:p.Lys82fs
cytochrome c oxidase assembly factor 1 homolog isoform e NP_001358247.1:p.Lys84= NP_001358247.1:p.Lys84fs
cytochrome c oxidase assembly factor 1 homolog isoform a NP_001358238.1:p.Lys88= NP_001358238.1:p.Lys88fs
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4162366839 Apr 27, 2021 (155)
2 TOPMED ss4743763326 Apr 27, 2021 (155)
3 gnomAD - Genomes NC_000007.14 - 43645252 Apr 27, 2021 (155)
4 TopMed NC_000007.14 - 43645252 Apr 27, 2021 (155)
5 ALFA NC_000007.14 - 43645252 Apr 27, 2021 (155)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
259652218, 581140885, ss4162366839, ss4743763326 NC_000007.14:43645251:T: NC_000007.14:43645251:TT:T (self)
13352237631 NC_000007.14:43645251:TT:T NC_000007.14:43645251:TT:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1387395621

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d