Canonical Allele Identifier: CA261438
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43566
ClinVar RCV Id: RCV000036506 RCV000169244 RCV000724118 RCV001004629 RCV001291246 RCV001814026
dbSNP Id: rs111033256
ExAC: 7:107315505 T / A
gnomAD v2: 7-107315505-T-A
gnomAD v3: 7-107675060-T-A
gnomAD v4: 7-107675060-T-A
MyVariant Identifiers: chr7:g.107315505T>A (hg19) chr7:g.107675060T>A (hg38)
PubMed: PMID:12676893 PMID:12974744 PMID:16460646 PMID:19287372 PMID:22116360 PMID:23336812 PMID:23504402 PMID:23891399 PMID:23965030
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107675060T>A , CM000669.2:g.107675060T>A GRCh38
NC_000007.13:g.107315505T>A , CM000669.1:g.107315505T>A GRCh37
NC_000007.12:g.107102741T>A NCBI36
NG_008489.1:g.19426T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.716T>A MANE Select ENSP00000494017.1:p.Val239Asp
ENST00000265715.7:c.716T>A ENSP00000265715.3:p.Val239Asp
NM_000441.1:c.716T>A NP_000432.1:p.Val239Asp
XM_005250425.1:c.716T>A XP_005250482.1:p.Val239Asp
XM_006716025.2:c.716T>A XP_006716088.1:p.Val239Asp
XM_005250425.2:c.716T>A XP_005250482.1:p.Val239Asp
XM_006716025.3:c.716T>A XP_006716088.1:p.Val239Asp
XM_017012318.1:c.716T>A XP_016867807.1:p.Val239Asp
NM_000441.2:c.716T>A MANE Select NP_000432.1:p.Val239Asp
Search 100 bp 5'
Search 100 bp 3'