SNP Links for Protein (Select 154240673) - SNP

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Links from Protein

Items: 1 to 20 of 77

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Select item 14897771091.

rs1489777109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:119300507 (GRCh38)
4:120221662 (GRCh37)
Canonical SPDI:: NC_000004.12:119300506:C:T
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.119300507C>T, NC_000004.11:g.120221662C>T, NM_001001701.4:c.29G>A, NM_001001701.3:c.29G>A, NM_001170330.1:c.428G>A, NP_001001701.2:p.Gly10Asp, NP_001163801.1:p.Gly143Asp

Select item 14785495082.

rs1478549508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:119300490 (GRCh38)
4:120221645 (GRCh37)
Canonical SPDI:: NC_000004.12:119300489:C:G,NC_000004.12:119300489:C:T
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.119300490C>G, NC_000004.12:g.119300490C>T, NC_000004.11:g.120221645C>G, NC_000004.11:g.120221645C>T, NM_001001701.4:c.46G>C, NM_001001701.4:c.46G>A, NM_001001701.3:c.46G>C, NM_001001701.3:c.46G>A, NM_001170330.1:c.445G>C, NM_001170330.1:c.445G>A, NP_001001701.2:p.Glu16Gln, NP_001001701.2:p.Glu16Lys, NP_001163801.1:p.Glu149Gln, NP_001163801.1:p.Glu149Lys

Select item 14728187263.

rs1472818726 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:119300348 (GRCh38)
4:120221503 (GRCh37)
Canonical SPDI:: NC_000004.12:119300347:T:C
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.119300348T>C, NC_000004.11:g.120221503T>C, NM_001001701.4:c.188A>G, NM_001001701.3:c.188A>G, NM_001170330.1:c.587A>G, NP_001001701.2:p.Tyr63Cys, NP_001163801.1:p.Tyr196Cys

Select item 14415159284.

rs1441515928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:119300469 (GRCh38)
4:120221624 (GRCh37)
Canonical SPDI:: NC_000004.12:119300468:C:T
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.119300469C>T, NC_000004.11:g.120221624C>T, NM_001001701.4:c.67G>A, NM_001001701.3:c.67G>A, NM_001170330.1:c.466G>A, NP_001001701.2:p.Gly23Arg, NP_001163801.1:p.Gly156Arg

Select item 14354691075.

rs1435469107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:119300492 (GRCh38)
4:120221647 (GRCh37)
Canonical SPDI:: NC_000004.12:119300491:C:A
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.119300492C>A, NC_000004.11:g.120221647C>A, NM_001001701.4:c.44G>T, NM_001001701.3:c.44G>T, NM_001170330.1:c.443G>T, NP_001001701.2:p.Arg15Leu, NP_001163801.1:p.Arg148Leu

Select item 14231038556.

rs1423103855 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 4:119300496 (GRCh38)
4:120221651 (GRCh37)
Canonical SPDI:: NC_000004.12:119300495:G:
Gene:: C4orf3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.119300496del, NC_000004.11:g.120221651del, NM_001001701.4:c.40del, NM_001001701.3:c.40del, NM_001170330.1:c.439del, NP_001001701.2:p.Leu14fs, NP_001163801.1:p.Leu147fs

Select item 14156375437.

rs1415637543 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:119300342 (GRCh38)
4:120221497 (GRCh37)
Canonical SPDI:: NC_000004.12:119300341:A:C
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.119300342A>C, NC_000004.11:g.120221497A>C, NM_001001701.4:c.194T>G, NM_001001701.3:c.194T>G, NM_001170330.1:c.593T>G, NP_001001701.2:p.Leu65Trp, NP_001163801.1:p.Leu198Trp

Select item 14141278318.

rs1414127831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:119300497 (GRCh38)
4:120221652 (GRCh37)
Canonical SPDI:: NC_000004.12:119300496:A:C
Gene:: C4orf3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.119300497A>C, NC_000004.11:g.120221652A>C, NM_001001701.4:c.39T>G, NM_001001701.3:c.39T>G, NM_001170330.1:c.438T>G

Select item 13802734909.

rs1380273490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:119300485 (GRCh38)
4:120221640 (GRCh37)
Canonical SPDI:: NC_000004.12:119300484:C:A
Gene:: C4orf3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.119300485C>A, NC_000004.11:g.120221640C>A, NM_001001701.4:c.51G>T, NM_001001701.3:c.51G>T, NM_001170330.1:c.450G>T

Select item 136788632110.

rs1367886321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:119300468 (GRCh38)
4:120221623 (GRCh37)
Canonical SPDI:: NC_000004.12:119300467:C:T
Gene:: C4orf3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.119300468C>T, NC_000004.11:g.120221623C>T, NM_001001701.4:c.68G>A, NM_001001701.3:c.68G>A, NM_001170330.1:c.467G>A, NP_001001701.2:p.Gly23Glu, NP_001163801.1:p.Gly156Glu

Select item 136129558011.

rs1361295580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:119300433 (GRCh38)
4:120221588 (GRCh37)
Canonical SPDI:: NC_000004.12:119300432:C:G
Gene:: C4orf3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.119300433C>G, NC_000004.11:g.120221588C>G, NM_001001701.4:c.103G>C, NM_001001701.3:c.103G>C, NM_001170330.1:c.502G>C, NP_001001701.2:p.Gly35Arg, NP_001163801.1:p.Gly168Arg

Select item 135990290112.

rs1359902901 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:119300338 (GRCh38)
4:120221493 (GRCh37)
Canonical SPDI:: NC_000004.12:119300337:T:A,NC_000004.12:119300337:T:C
Gene:: C4orf3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.119300338T>A, NC_000004.12:g.119300338T>C, NC_000004.11:g.120221493T>A, NC_000004.11:g.120221493T>C, NM_001001701.4:c.198A>T, NM_001001701.4:c.198A>G, NM_001001701.3:c.198A>T, NM_001001701.3:c.198A>G, NM_001170330.1:c.597A>T, NM_001170330.1:c.597A>G

Select item 134846344613.

rs1348463446 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCCTC>- [Show Flanks]
Chromosome:: 4:119300467 (GRCh38)
4:120221622 (GRCh37)
Canonical SPDI:: NC_000004.12:119300465:CTCCCTC:C
Gene:: C4orf3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
HGVS:: NC_000004.12:g.119300467_119300472del, NC_000004.11:g.120221622_120221627del, NM_001001701.4:c.65_70del, NM_001001701.3:c.65_70del, NM_001170330.1:c.464_469del, NP_001001701.2:p.Glu22_Gly23del, NP_001163801.1:p.Glu155_Gly156del

Select item 131565449214.

rs1315654492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:119300523 (GRCh38)
4:120221678 (GRCh37)
Canonical SPDI:: NC_000004.12:119300522:C:G
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000029/4 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000004.12:g.119300523C>G, NC_000004.11:g.120221678C>G, NM_001001701.4:c.13G>C, NM_001001701.3:c.13G>C, NM_001170330.1:c.412G>C, NP_001001701.2:p.Ala5Pro, NP_001163801.1:p.Ala138Pro

Select item 129541604315.

rs1295416043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:119300349 (GRCh38)
4:120221504 (GRCh37)
Canonical SPDI:: NC_000004.12:119300348:A:C,NC_000004.12:119300348:A:G
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.119300349A>C, NC_000004.12:g.119300349A>G, NC_000004.11:g.120221504A>C, NC_000004.11:g.120221504A>G, NM_001001701.4:c.187T>G, NM_001001701.4:c.187T>C, NM_001001701.3:c.187T>G, NM_001001701.3:c.187T>C, NM_001170330.1:c.586T>G, NM_001170330.1:c.586T>C, NP_001001701.2:p.Tyr63Asp, NP_001001701.2:p.Tyr63His, NP_001163801.1:p.Tyr196Asp, NP_001163801.1:p.Tyr196His

Select item 128673382016.

rs1286733820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:119300387 (GRCh38)
4:120221542 (GRCh37)
Canonical SPDI:: NC_000004.12:119300386:A:T
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.119300387A>T, NC_000004.11:g.120221542A>T, NM_001001701.4:c.149T>A, NM_001001701.3:c.149T>A, NM_001170330.1:c.548T>A, NP_001001701.2:p.Leu50His, NP_001163801.1:p.Leu183His

Select item 127257553217.

rs1272575532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:119300519 (GRCh38)
4:120221674 (GRCh37)
Canonical SPDI:: NC_000004.12:119300518:G:A
Gene:: C4orf3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.119300519G>A, NC_000004.11:g.120221674G>A, NM_001001701.4:c.17C>T, NM_001001701.3:c.17C>T, NM_001170330.1:c.416C>T, NP_001001701.2:p.Pro6Leu, NP_001163801.1:p.Pro139Leu

Select item 123788749718.

rs1237887497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:119300459 (GRCh38)
4:120221614 (GRCh37)
Canonical SPDI:: NC_000004.12:119300458:T:C
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.119300459T>C, NC_000004.11:g.120221614T>C, NM_001001701.4:c.77A>G, NM_001001701.3:c.77A>G, NM_001170330.1:c.476A>G, NP_001001701.2:p.Gln26Arg, NP_001163801.1:p.Gln159Arg

Select item 122912966819.

rs1229129668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:119300424 (GRCh38)
4:120221579 (GRCh37)
Canonical SPDI:: NC_000004.12:119300423:C:T
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.119300424C>T, NC_000004.11:g.120221579C>T, NM_001001701.4:c.112G>A, NM_001001701.3:c.112G>A, NM_001170330.1:c.511G>A, NP_001001701.2:p.Gly38Arg, NP_001163801.1:p.Gly171Arg

Select item 122144406820.

rs1221444068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:119300402 (GRCh38)
4:120221557 (GRCh37)
Canonical SPDI:: NC_000004.12:119300401:C:G
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.119300402C>G, NC_000004.11:g.120221557C>G, NM_001001701.4:c.134G>C, NM_001001701.3:c.134G>C, NM_001170330.1:c.533G>C, NP_001001701.2:p.Trp45Ser, NP_001163801.1:p.Trp178Ser

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