Canonical Allele Identifier: CA132664
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43507
ClinVar RCV Id: RCV000036441 RCV000441541 RCV000710343 RCV001162716 RCV001258258 RCV002496560
dbSNP Id: rs375576481
ExAC: 7:107335087 A / T
gnomAD v2: 7-107335087-A-T
gnomAD v3: 7-107694642-A-T
gnomAD v4: 7-107694642-A-T
COSMIC: COSM5712425
MyVariant Identifiers: chr7:g.107335087A>T (hg19) chr7:g.107694642A>T (hg38)
PubMed: PMID:12676893 PMID:19287372 PMID:23891399
ERepo: CA132664/MONDO:0010134/005
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107694642A>T , CM000669.2:g.107694642A>T GRCh38
NC_000007.13:g.107335087A>T , CM000669.1:g.107335087A>T GRCh37
NC_000007.12:g.107122323A>T NCBI36
NG_008489.1:g.39008A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1363A>T MANE Select ENSP00000494017.1:p.Ile455Phe
ENST00000644846.1:c.74A>T
ENST00000265715.7:c.1363A>T ENSP00000265715.3:p.Ile455Phe
ENST00000460748.1:n.466A>T
ENST00000477350.5:n.210A>T
ENST00000480841.5:n.212A>T
ENST00000497446.5:n.378A>T
NM_000441.1:c.1363A>T NP_000432.1:p.Ile455Phe
XM_005250425.1:c.1363A>T XP_005250482.1:p.Ile455Phe
XM_005250425.2:c.1363A>T XP_005250482.1:p.Ile455Phe
XM_017012318.1:c.1285A>T XP_016867807.1:p.Ile429Phe
NM_000441.2:c.1363A>T MANE Select NP_000432.1:p.Ile455Phe
Search 100 bp 5'
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