Canonical Allele Identifier: CA368840299

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1204261613
• gnomAD v3: 7-107694433-A-G
• gnomAD v4: 7-107694433-A-G
• MyVariant Identifiers: chr7:g.107334878A>G (hg19) ; chr7:g.107694433A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694433A>G , CM000669.2:g.107694433A>G	GRCh38
NC_000007.13:g.107334878A>G , CM000669.1:g.107334878A>G	GRCh37
NC_000007.12:g.107122114A>G	NCBI36
NG_008489.1:g.38799A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1294A>G MANE Select	ENSP00000494017.1:p.Met432Val
ENST00000644846.1:c.5A>G
ENST00000265715.7:c.1294A>G	ENSP00000265715.3:p.Met432Val
ENST00000460748.1:n.397A>G
ENST00000477350.5:n.189-188A>G
ENST00000480841.5:n.143A>G
ENST00000497446.5:n.309A>G
NM_000441.1:c.1294A>G	NP_000432.1:p.Met432Val
XM_005250425.1:c.1294A>G	XP_005250482.1:p.Met432Val
XM_005250425.2:c.1294A>G	XP_005250482.1:p.Met432Val
XM_017012318.1:c.1264-188A>G	XP_016867807.1:n.1264-188A>G
NM_000441.2:c.1294A>G MANE Select	NP_000432.1:p.Met432Val