Canonical Allele Identifier: CA368843797
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 691517
ClinVar RCV Id: RCV001004648
dbSNP Id: rs1584337274
MyVariant Identifiers: chr7:g.107342465C>T (hg19) chr7:g.107702020C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107702020C>T , CM000669.2:g.107702020C>T GRCh38
NC_000007.13:g.107342465C>T , CM000669.1:g.107342465C>T GRCh37
NC_000007.12:g.107129701C>T NCBI36
NG_008489.1:g.46386C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1997C>T MANE Select ENSP00000494017.1:p.Ser666Phe
ENST00000644846.1:c.708C>T
ENST00000265715.7:c.1997C>T ENSP00000265715.3:p.Ser666Phe
ENST00000492030.2:n.284C>T
NM_000441.1:c.1997C>T NP_000432.1:p.Ser666Phe
XM_005250425.1:c.1997C>T XP_005250482.1:p.Ser666Phe
XM_005250425.2:c.1997C>T XP_005250482.1:p.Ser666Phe
XM_017012318.1:c.1919C>T XP_016867807.1:p.Ser640Phe
NM_000441.2:c.1997C>T MANE Select NP_000432.1:p.Ser666Phe
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