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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.

rs1484443997

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:55350948 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/251238, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TCF4 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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
gnomAD - Exomes Global Study-wide 251238 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 135230 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 49000 G=0.99998 A=0.00002
gnomAD - Exomes American Sub 34570 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16252 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10076 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6110 G=1.0000 A=0.0000
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 18 NC_000018.10:g.55350948G>A
GRCh37.p13 chr 18 NC_000018.9:g.53018179G>A
TCF4 RefSeqGene NG_011716.2:g.290046C>T
Gene: TCF4, transcription factor 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TCF4 transcript variant 10 NM_001243234.2:c. N/A Genic Upstream Transcript Variant
TCF4 transcript variant 11 NM_001243235.2:c. N/A Genic Upstream Transcript Variant
TCF4 transcript variant 12 NM_001243236.2:c. N/A Genic Upstream Transcript Variant
TCF4 transcript variant 20 NM_001348214.2:c. N/A Genic Upstream Transcript Variant
TCF4 transcript variant 21 NM_001348215.2:c. N/A Genic Upstream Transcript Variant
TCF4 transcript variant 22 NM_001348216.2:c. N/A Genic Upstream Transcript Variant
TCF4 transcript variant 8 NM_001243232.1:c.212C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform h NP_001230161.1:p.Thr71Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 13 NM_001306207.1:c.353C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform m NP_001293136.1:p.Thr118Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 14 NM_001306208.1:c.212C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform n NP_001293137.1:p.Thr71Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 23 NM_001348217.1:c.353C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform d NP_001335146.1:p.Thr118Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 26 NM_001348220.1:c.350C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform u NP_001335149.1:p.Thr117Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 32 NM_001369572.1:c.425C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform b NP_001356501.1:p.Thr142Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 33 NM_001369573.1:c.422C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform x NP_001356502.1:p.Thr141Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 34 NM_001369574.1:c.425C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform 27 NP_001356503.1:p.Thr142Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 35 NM_001369575.1:c.353C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform d NP_001356504.1:p.Thr118Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 36 NM_001369576.1:c.350C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform y NP_001356505.1:p.Thr117Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 37 NM_001369577.1:c.353C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform 28 NP_001356506.1:p.Thr118Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 38 NM_001369578.1:c.350C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform y NP_001356507.1:p.Thr117Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 39 NM_001369579.1:c.353C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform 28 NP_001356508.1:p.Thr118Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 40 NM_001369580.1:c.353C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform 28 NP_001356509.1:p.Thr118Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 41 NM_001369581.1:c.350C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform y NP_001356510.1:p.Thr117Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 42 NM_001369582.1:c.353C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform m NP_001356511.1:p.Thr118Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 43 NM_001369583.1:c.353C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform m NP_001356512.1:p.Thr118Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 44 NM_001369584.1:c.350C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform u NP_001356513.1:p.Thr117Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 45 NM_001369585.1:c.350C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform u NP_001356514.1:p.Thr117Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 46 NM_001369586.1:c.353C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform z NP_001356515.1:p.Thr118Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 1 NM_001083962.2:c.425C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform a NP_001077431.1:p.Thr142Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 15 NM_001330604.3:c.425C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform o NP_001317533.1:p.Thr142Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 2 NM_003199.3:c.425C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform b NP_003190.1:p.Thr142Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 9 NM_001243233.2:c.35C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform i NP_001230162.1:p.Thr12Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 16 NM_001330605.3:c.35C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform p NP_001317534.1:p.Thr12Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 19 NM_001348213.2:c.35C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform p NP_001335142.1:p.Thr12Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 25 NM_001348219.2:c.353C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform m NP_001335148.1:p.Thr118Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 4 NM_001243227.2:c.353C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform d NP_001230156.1:p.Thr118Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 5 NM_001243228.2:c.425C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform e NP_001230157.1:p.Thr142Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 17 NM_001348211.2:c.299C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform q NP_001335140.1:p.Thr100Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 7 NM_001243231.2:c.299C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform g NP_001230160.1:p.Thr100Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 18 NM_001348212.2:c.35C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform i NP_001335141.1:p.Thr12Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 24 NM_001348218.2:c.353C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform d NP_001335147.1:p.Thr118Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 3 NM_001243226.3:c.731C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform c precursor NP_001230155.2:p.Thr244Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 27 NM_001369567.1:c.425C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform a NP_001356496.1:p.Thr142Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 28 NM_001369568.1:c.425C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform a NP_001356497.1:p.Thr142Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 29 NM_001369569.1:c.422C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform v NP_001356498.1:p.Thr141Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 30 NM_001369570.1:c.422C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform v NP_001356499.1:p.Thr141Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 31 NM_001369571.1:c.425C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform b NP_001356500.1:p.Thr142Ile T (Thr) > I (Ile) Missense Variant
TCF4 transcript variant 6 NM_001243230.2:c.419C>T T [ACC] > I [ATC] Coding Sequence Variant
transcription factor 4 isoform f NP_001230159.1:p.Thr140Ile T (Thr) > I (Ile) Missense 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 G= A
GRCh38.p14 chr 18 NC_000018.10:g.55350948= NC_000018.10:g.55350948G>A
GRCh37.p13 chr 18 NC_000018.9:g.53018179= NC_000018.9:g.53018179G>A
TCF4 RefSeqGene NG_011716.2:g.290046= NG_011716.2:g.290046C>T
TCF4 transcript variant 3 NM_001243226.3:c.731= NM_001243226.3:c.731C>T
TCF4 transcript variant 3 NM_001243226.2:c.731= NM_001243226.2:c.731C>T
TCF4 transcript variant 3 NM_001243226.1:c.731= NM_001243226.1:c.731C>T
TCF4 transcript variant 15 NM_001330604.3:c.425= NM_001330604.3:c.425C>T
TCF4 transcript variant 15 NM_001330604.2:c.425= NM_001330604.2:c.425C>T
TCF4 transcript variant 15 NM_001330604.1:c.425= NM_001330604.1:c.425C>T
TCF4 transcript variant 2 NM_003199.3:c.425= NM_003199.3:c.425C>T
TCF4 transcript variant 2 NM_003199.2:c.425= NM_003199.2:c.425C>T
TCF4 transcript variant 16 NM_001330605.3:c.35= NM_001330605.3:c.35C>T
TCF4 transcript variant 16 NM_001330605.2:c.35= NM_001330605.2:c.35C>T
TCF4 transcript variant 16 NM_001330605.1:c.35= NM_001330605.1:c.35C>T
TCF4 transcript variant 5 NM_001243228.2:c.425= NM_001243228.2:c.425C>T
TCF4 transcript variant 5 NM_001243228.1:c.425= NM_001243228.1:c.425C>T
TCF4 transcript variant 4 NM_001243227.2:c.353= NM_001243227.2:c.353C>T
TCF4 transcript variant 4 NM_001243227.1:c.353= NM_001243227.1:c.353C>T
TCF4 transcript variant 1 NM_001083962.2:c.425= NM_001083962.2:c.425C>T
TCF4 transcript variant 1 NM_001083962.1:c.425= NM_001083962.1:c.425C>T
TCF4 transcript variant 24 NM_001348218.2:c.353= NM_001348218.2:c.353C>T
TCF4 transcript variant 24 NM_001348218.1:c.353= NM_001348218.1:c.353C>T
TCF4 transcript variant 25 NM_001348219.2:c.353= NM_001348219.2:c.353C>T
TCF4 transcript variant 25 NM_001348219.1:c.353= NM_001348219.1:c.353C>T
TCF4 transcript variant 6 NM_001243230.2:c.419= NM_001243230.2:c.419C>T
TCF4 transcript variant 6 NM_001243230.1:c.419= NM_001243230.1:c.419C>T
TCF4 transcript variant 17 NM_001348211.2:c.299= NM_001348211.2:c.299C>T
TCF4 transcript variant 17 NM_001348211.1:c.299= NM_001348211.1:c.299C>T
TCF4 transcript variant 7 NM_001243231.2:c.299= NM_001243231.2:c.299C>T
TCF4 transcript variant 7 NM_001243231.1:c.299= NM_001243231.1:c.299C>T
TCF4 transcript variant 19 NM_001348213.2:c.35= NM_001348213.2:c.35C>T
TCF4 transcript variant 19 NM_001348213.1:c.35= NM_001348213.1:c.35C>T
TCF4 transcript variant 9 NM_001243233.2:c.35= NM_001243233.2:c.35C>T
TCF4 transcript variant 9 NM_001243233.1:c.35= NM_001243233.1:c.35C>T
TCF4 transcript variant 18 NM_001348212.2:c.35= NM_001348212.2:c.35C>T
TCF4 transcript variant 18 NM_001348212.1:c.35= NM_001348212.1:c.35C>T
TCF4 transcript variant 27 NM_001369567.1:c.425= NM_001369567.1:c.425C>T
TCF4 transcript variant 31 NM_001369571.1:c.425= NM_001369571.1:c.425C>T
TCF4 transcript variant 46 NM_001369586.1:c.353= NM_001369586.1:c.353C>T
TCF4 transcript variant 37 NM_001369577.1:c.353= NM_001369577.1:c.353C>T
TCF4 transcript variant 36 NM_001369576.1:c.350= NM_001369576.1:c.350C>T
TCF4 transcript variant 42 NM_001369582.1:c.353= NM_001369582.1:c.353C>T
TCF4 transcript variant 44 NM_001369584.1:c.350= NM_001369584.1:c.350C>T
TCF4 transcript variant 30 NM_001369570.1:c.422= NM_001369570.1:c.422C>T
TCF4 transcript variant 28 NM_001369568.1:c.425= NM_001369568.1:c.425C>T
TCF4 transcript variant 29 NM_001369569.1:c.422= NM_001369569.1:c.422C>T
TCF4 transcript variant 34 NM_001369574.1:c.425= NM_001369574.1:c.425C>T
TCF4 transcript variant 33 NM_001369573.1:c.422= NM_001369573.1:c.422C>T
TCF4 transcript variant 32 NM_001369572.1:c.425= NM_001369572.1:c.425C>T
TCF4 transcript variant 23 NM_001348217.1:c.353= NM_001348217.1:c.353C>T
TCF4 transcript variant 35 NM_001369575.1:c.353= NM_001369575.1:c.353C>T
TCF4 transcript variant 39 NM_001369579.1:c.353= NM_001369579.1:c.353C>T
TCF4 transcript variant 38 NM_001369578.1:c.350= NM_001369578.1:c.350C>T
TCF4 transcript variant 13 NM_001306207.1:c.353= NM_001306207.1:c.353C>T
TCF4 transcript variant 26 NM_001348220.1:c.350= NM_001348220.1:c.350C>T
TCF4 transcript variant 41 NM_001369581.1:c.350= NM_001369581.1:c.350C>T
TCF4 transcript variant 40 NM_001369580.1:c.353= NM_001369580.1:c.353C>T
TCF4 transcript variant 43 NM_001369583.1:c.353= NM_001369583.1:c.353C>T
TCF4 transcript variant 45 NM_001369585.1:c.350= NM_001369585.1:c.350C>T
TCF4 transcript variant 8 NM_001243232.1:c.212= NM_001243232.1:c.212C>T
TCF4 transcript variant 14 NM_001306208.1:c.212= NM_001306208.1:c.212C>T
transcription factor 4 isoform c precursor NP_001230155.2:p.Thr244= NP_001230155.2:p.Thr244Ile
transcription factor 4 isoform o NP_001317533.1:p.Thr142= NP_001317533.1:p.Thr142Ile
transcription factor 4 isoform b NP_003190.1:p.Thr142= NP_003190.1:p.Thr142Ile
transcription factor 4 isoform p NP_001317534.1:p.Thr12= NP_001317534.1:p.Thr12Ile
transcription factor 4 isoform e NP_001230157.1:p.Thr142= NP_001230157.1:p.Thr142Ile
transcription factor 4 isoform d NP_001230156.1:p.Thr118= NP_001230156.1:p.Thr118Ile
transcription factor 4 isoform a NP_001077431.1:p.Thr142= NP_001077431.1:p.Thr142Ile
transcription factor 4 isoform d NP_001335147.1:p.Thr118= NP_001335147.1:p.Thr118Ile
transcription factor 4 isoform m NP_001335148.1:p.Thr118= NP_001335148.1:p.Thr118Ile
transcription factor 4 isoform f NP_001230159.1:p.Thr140= NP_001230159.1:p.Thr140Ile
transcription factor 4 isoform q NP_001335140.1:p.Thr100= NP_001335140.1:p.Thr100Ile
transcription factor 4 isoform g NP_001230160.1:p.Thr100= NP_001230160.1:p.Thr100Ile
transcription factor 4 isoform p NP_001335142.1:p.Thr12= NP_001335142.1:p.Thr12Ile
transcription factor 4 isoform i NP_001230162.1:p.Thr12= NP_001230162.1:p.Thr12Ile
transcription factor 4 isoform i NP_001335141.1:p.Thr12= NP_001335141.1:p.Thr12Ile
transcription factor 4 isoform a NP_001356496.1:p.Thr142= NP_001356496.1:p.Thr142Ile
transcription factor 4 isoform b NP_001356500.1:p.Thr142= NP_001356500.1:p.Thr142Ile
transcription factor 4 isoform z NP_001356515.1:p.Thr118= NP_001356515.1:p.Thr118Ile
transcription factor 4 isoform 28 NP_001356506.1:p.Thr118= NP_001356506.1:p.Thr118Ile
transcription factor 4 isoform y NP_001356505.1:p.Thr117= NP_001356505.1:p.Thr117Ile
transcription factor 4 isoform m NP_001356511.1:p.Thr118= NP_001356511.1:p.Thr118Ile
transcription factor 4 isoform u NP_001356513.1:p.Thr117= NP_001356513.1:p.Thr117Ile
transcription factor 4 isoform v NP_001356499.1:p.Thr141= NP_001356499.1:p.Thr141Ile
transcription factor 4 isoform a NP_001356497.1:p.Thr142= NP_001356497.1:p.Thr142Ile
transcription factor 4 isoform v NP_001356498.1:p.Thr141= NP_001356498.1:p.Thr141Ile
transcription factor 4 isoform 27 NP_001356503.1:p.Thr142= NP_001356503.1:p.Thr142Ile
transcription factor 4 isoform x NP_001356502.1:p.Thr141= NP_001356502.1:p.Thr141Ile
transcription factor 4 isoform b NP_001356501.1:p.Thr142= NP_001356501.1:p.Thr142Ile
transcription factor 4 isoform d NP_001335146.1:p.Thr118= NP_001335146.1:p.Thr118Ile
transcription factor 4 isoform d NP_001356504.1:p.Thr118= NP_001356504.1:p.Thr118Ile
transcription factor 4 isoform 28 NP_001356508.1:p.Thr118= NP_001356508.1:p.Thr118Ile
transcription factor 4 isoform y NP_001356507.1:p.Thr117= NP_001356507.1:p.Thr117Ile
transcription factor 4 isoform m NP_001293136.1:p.Thr118= NP_001293136.1:p.Thr118Ile
transcription factor 4 isoform u NP_001335149.1:p.Thr117= NP_001335149.1:p.Thr117Ile
transcription factor 4 isoform y NP_001356510.1:p.Thr117= NP_001356510.1:p.Thr117Ile
transcription factor 4 isoform 28 NP_001356509.1:p.Thr118= NP_001356509.1:p.Thr118Ile
transcription factor 4 isoform m NP_001356512.1:p.Thr118= NP_001356512.1:p.Thr118Ile
transcription factor 4 isoform u NP_001356514.1:p.Thr117= NP_001356514.1:p.Thr117Ile
transcription factor 4 isoform h NP_001230161.1:p.Thr71= NP_001230161.1:p.Thr71Ile
transcription factor 4 isoform n NP_001293137.1:p.Thr71= NP_001293137.1:p.Thr71Ile
transcription factor 4 isoform c NP_001230155.1:p.Thr244= NP_001230155.1:p.Thr244Ile
TCF4 transcript variant X11 XM_005266748.1:c.369+52506= XM_005266748.1:c.369+52506C>T
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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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2743309843 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000018.9 - 53018179 Jul 13, 2019 (153)
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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
12622749, ss2743309843 NC_000018.9:53018178:G:A NC_000018.10:55350947:G:A (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 rs1484443997

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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