Canonical Allele Identifier: CA274086
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 188889
ClinVar RCV Id: RCV000169245 RCV000515737 RCV001048975
dbSNP Id: rs200455203
ExAC: 7:107342443 G / C
gnomAD v2: 7-107342443-G-C
gnomAD v3: 7-107701998-G-C
gnomAD v4: 7-107701998-G-C
MyVariant Identifiers: chr7:g.107342443G>C (hg19) chr7:g.107701998G>C (hg38)
PubMed: PMID:17443271 PMID:17718863 PMID:18274916 PMID:19040761 PMID:19645628 PMID:19744334 PMID:21961810 PMID:22384008 PMID:23151025 PMID:23638949 PMID:23918157 PMID:24105851 PMID:24341454 PMID:24599119 PMID:24612839
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701998G>C , CM000669.2:g.107701998G>C GRCh38
NC_000007.13:g.107342443G>C , CM000669.1:g.107342443G>C GRCh37
NC_000007.12:g.107129679G>C NCBI36
NG_008489.1:g.46364G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1975G>C MANE Select ENSP00000494017.1:p.Val659Leu
ENST00000644846.1:c.686G>C
ENST00000265715.7:c.1975G>C ENSP00000265715.3:p.Val659Leu
ENST00000492030.2:n.262G>C
NM_000441.1:c.1975G>C NP_000432.1:p.Val659Leu
XM_005250425.1:c.1975G>C XP_005250482.1:p.Val659Leu
XM_005250425.2:c.1975G>C XP_005250482.1:p.Val659Leu
XM_017012318.1:c.1897G>C XP_016867807.1:p.Val633Leu
NM_000441.2:c.1975G>C MANE Select NP_000432.1:p.Val659Leu
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