Canonical Allele Identifier: CA164214226

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1008304898
• gnomAD v4: 7-107694348-G-A
• MyVariant Identifiers: chr7:g.107334793G>A (hg19) ; chr7:g.107694348G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694348G>A , CM000669.2:g.107694348G>A	GRCh38
NC_000007.13:g.107334793G>A , CM000669.1:g.107334793G>A	GRCh37
NC_000007.12:g.107122029G>A	NCBI36
NG_008489.1:g.38714G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1264-55G>A MANE Select	ENSP00000494017.1:n.1264-55G>A
ENST00000265715.7:c.1264-55G>A	ENSP00000265715.3:n.1264-55G>A
ENST00000460748.1:n.367-55G>A
ENST00000477350.5:n.189-273G>A
ENST00000480841.5:n.113-55G>A
ENST00000497446.5:n.279-55G>A
NM_000441.1:c.1264-55G>A	NP_000432.1:n.1264-55G>A
XM_005250425.1:c.1264-55G>A	XP_005250482.1:n.1264-55G>A
XM_006716025.2:c.*788G>A	XP_006716088.1:n.*788G>A
XM_005250425.2:c.1264-55G>A	XP_005250482.1:n.1264-55G>A
XM_006716025.3:c.*788G>A	XP_006716088.1:n.*788G>A
XM_017012318.1:c.1264-273G>A	XP_016867807.1:n.1264-273G>A
NM_000441.2:c.1264-55G>A MANE Select	NP_000432.1:n.1264-55G>A