Canonical Allele Identifier: CA368840355

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1225686055
• gnomAD v3: 7-107694448-G-A
• gnomAD v4: 7-107694448-G-A
• MyVariant Identifiers: chr7:g.107334893G>A (hg19) ; chr7:g.107694448G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694448G>A , CM000669.2:g.107694448G>A	GRCh38
NC_000007.13:g.107334893G>A , CM000669.1:g.107334893G>A	GRCh37
NC_000007.12:g.107122129G>A	NCBI36
NG_008489.1:g.38814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1309G>A MANE Select	ENSP00000494017.1:p.Ala437Thr
ENST00000644846.1:c.20G>A
ENST00000265715.7:c.1309G>A	ENSP00000265715.3:p.Ala437Thr
ENST00000460748.1:n.412G>A
ENST00000477350.5:n.189-173G>A
ENST00000480841.5:n.158G>A
ENST00000497446.5:n.324G>A
NM_000441.1:c.1309G>A	NP_000432.1:p.Ala437Thr
XM_005250425.1:c.1309G>A	XP_005250482.1:p.Ala437Thr
XM_005250425.2:c.1309G>A	XP_005250482.1:p.Ala437Thr
XM_017012318.1:c.1264-173G>A	XP_016867807.1:n.1264-173G>A
NM_000441.2:c.1309G>A MANE Select	NP_000432.1:p.Ala437Thr