Canonical Allele Identifier: CA180674
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 177738
ClinVar RCV Id: RCV000154348 RCV000673746 RCV000938882 RCV001162717
dbSNP Id: rs200511789
ExAC: 7:107336408 A / C
gnomAD v2: 7-107336408-A-C
gnomAD v3: 7-107695963-A-C
gnomAD v4: 7-107695963-A-C
MyVariant Identifiers: chr7:g.107336408A>C (hg19) chr7:g.107695963A>C (hg38)
PubMed: PMID:9500541 PMID:10861298 PMID:23965030
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695963A>C , CM000669.2:g.107695963A>C GRCh38
NC_000007.13:g.107336408A>C , CM000669.1:g.107336408A>C GRCh37
NC_000007.12:g.107123644A>C NCBI36
NG_008489.1:g.40329A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1468A>C MANE Select ENSP00000494017.1:p.Ile490Leu
ENST00000644846.1:c.179A>C
ENST00000265715.7:c.1468A>C ENSP00000265715.3:p.Ile490Leu
ENST00000460748.1:n.571A>C
ENST00000477350.5:n.315A>C
ENST00000480841.5:n.317A>C
ENST00000497446.5:n.483A>C
NM_000441.1:c.1468A>C NP_000432.1:p.Ile490Leu
XM_005250425.1:c.1468A>C XP_005250482.1:p.Ile490Leu
XM_005250425.2:c.1468A>C XP_005250482.1:p.Ile490Leu
XM_017012318.1:c.1390A>C XP_016867807.1:p.Ile464Leu
NM_000441.2:c.1468A>C MANE Select NP_000432.1:p.Ile490Leu
Search 100 bp 5'
Search 100 bp 3'