Canonical Allele Identifier: CA368843347

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1791897934
• gnomAD v4: 7-107701890-G-T
• MyVariant Identifiers: chr7:g.107342335G>T (hg19) ; chr7:g.107701890G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701890G>T , CM000669.2:g.107701890G>T	GRCh38
NC_000007.13:g.107342335G>T , CM000669.1:g.107342335G>T	GRCh37
NC_000007.12:g.107129571G>T	NCBI36
NG_008489.1:g.46256G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1867G>T MANE Select	ENSP00000494017.1:p.Asp623Tyr
ENST00000644846.1:c.578G>T
ENST00000265715.7:c.1867G>T	ENSP00000265715.3:p.Asp623Tyr
ENST00000492030.2:n.154G>T
NM_000441.1:c.1867G>T	NP_000432.1:p.Asp623Tyr
XM_005250425.1:c.1867G>T	XP_005250482.1:p.Asp623Tyr
XM_005250425.2:c.1867G>T	XP_005250482.1:p.Asp623Tyr
XM_017012318.1:c.1789G>T	XP_016867807.1:p.Asp597Tyr
NM_000441.2:c.1867G>T MANE Select	NP_000432.1:p.Asp623Tyr