Canonical Allele Identifier: CA261418
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43519
ClinVar RCV Id: RCV000036454 RCV000666339 RCV001004646 RCV001781350
dbSNP Id: rs111033257
gnomAD v2: 7-107340607-G-A
gnomAD v3: 7-107700162-G-A
gnomAD v4: 7-107700162-G-A
MyVariant Identifiers: chr7:g.107340607G>A (hg19) chr7:g.107700162G>A (hg38)
PubMed: PMID:9618166 PMID:14508505 PMID:15689455 PMID:15720248 PMID:16950989 PMID:19204907 PMID:20826203
ERepo: CA261418/MONDO:0010134/005
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107700162G>A , CM000669.2:g.107700162G>A GRCh38
NC_000007.13:g.107340607G>A , CM000669.1:g.107340607G>A GRCh37
NC_000007.12:g.107127843G>A NCBI36
NG_008489.1:g.44528G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1694G>A MANE Select ENSP00000494017.1:p.Cys565Tyr
ENST00000644846.1:c.405G>A
ENST00000265715.7:c.1694G>A ENSP00000265715.3:p.Cys565Tyr
ENST00000477350.5:n.541G>A
ENST00000480841.5:n.543G>A
ENST00000492030.2:n.77G>A
NM_000441.1:c.1694G>A NP_000432.1:p.Cys565Tyr
XM_005250425.1:c.1694G>A XP_005250482.1:p.Cys565Tyr
XM_005250425.2:c.1694G>A XP_005250482.1:p.Cys565Tyr
XM_017012318.1:c.1616G>A XP_016867807.1:p.Cys539Tyr
NM_000441.2:c.1694G>A MANE Select NP_000432.1:p.Cys565Tyr
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