Canonical Allele Identifier: CA368843742

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1311263
• ClinVar RCV Id: RCV001758772
• dbSNP Id: rs1336642579
• MyVariant Identifiers: chr7:g.107342439C>A (hg19) ; chr7:g.107701994C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701994C>A , CM000669.2:g.107701994C>A	GRCh38
NC_000007.13:g.107342439C>A , CM000669.1:g.107342439C>A	GRCh37
NC_000007.12:g.107129675C>A	NCBI36
NG_008489.1:g.46360C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1971C>A MANE Select	ENSP00000494017.1:p.Ser657Arg
ENST00000644846.1:c.682C>A
ENST00000265715.7:c.1971C>A	ENSP00000265715.3:p.Ser657Arg
ENST00000492030.2:n.258C>A
NM_000441.1:c.1971C>A	NP_000432.1:p.Ser657Arg
XM_005250425.1:c.1971C>A	XP_005250482.1:p.Ser657Arg
XM_005250425.2:c.1971C>A	XP_005250482.1:p.Ser657Arg
XM_017012318.1:c.1893C>A	XP_016867807.1:p.Ser631Arg
NM_000441.2:c.1971C>A MANE Select	NP_000432.1:p.Ser657Arg