Canonical Allele Identifier: CA577198947

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1295196897
• gnomAD v2: 7-107335017-T-A
• gnomAD v3: 7-107694572-T-A
• gnomAD v4: 7-107694572-T-A
• MyVariant Identifiers: chr7:g.107335017T>A (hg19) ; chr7:g.107694572T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694572T>A , CM000669.2:g.107694572T>A	GRCh38
NC_000007.13:g.107335017T>A , CM000669.1:g.107335017T>A	GRCh37
NC_000007.12:g.107122253T>A	NCBI36
NG_008489.1:g.38938T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1342-49T>A MANE Select	ENSP00000494017.1:n.1342-49T>A
ENST00000644846.1:c.53-49T>A
ENST00000265715.7:c.1342-49T>A	ENSP00000265715.3:n.1342-49T>A
ENST00000460748.1:n.445-49T>A
ENST00000477350.5:n.189-49T>A
ENST00000480841.5:n.191-49T>A
ENST00000497446.5:n.357-49T>A
NM_000441.1:c.1342-49T>A	NP_000432.1:n.1342-49T>A
XM_005250425.1:c.1342-49T>A	XP_005250482.1:n.1342-49T>A
XM_005250425.2:c.1342-49T>A	XP_005250482.1:n.1342-49T>A
XM_017012318.1:c.1264-49T>A	XP_016867807.1:n.1264-49T>A
NM_000441.2:c.1342-49T>A MANE Select	NP_000432.1:n.1342-49T>A