Canonical Allele Identifier: CA457103857
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2089509
ClinVar RCV Id: RCV003005587
MyVariant Identifiers: chr7:g.107342454T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107702009T>C , CM000669.2:g.107702009T>C GRCh38
NC_000007.13:g.107342454T>C , CM000669.1:g.107342454T>C GRCh37
NC_000007.12:g.107129690T>C NCBI36
NG_008489.1:g.46375T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1986T>C MANE Select ENSP00000494017.1:p.Cys662=
ENST00000644846.1:c.697T>C
ENST00000265715.7:c.1986T>C ENSP00000265715.3:p.Cys662=
ENST00000492030.2:n.273T>C
NM_000441.1:c.1986T>C NP_000432.1:p.Cys662=
XM_005250425.1:c.1986T>C XP_005250482.1:p.Cys662=
XM_005250425.2:c.1986T>C XP_005250482.1:p.Cys662=
XM_017012318.1:c.1908T>C XP_016867807.1:p.Cys636=
NM_000441.2:c.1986T>C MANE Select NP_000432.1:p.Cys662=
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