Canonical Allele Identifier: CA368841196

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1458066970
• gnomAD v4: 7-107695942-G-A
• MyVariant Identifiers: chr7:g.107336387G>A (hg19) ; chr7:g.107695942G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695942G>A , CM000669.2:g.107695942G>A	GRCh38
NC_000007.13:g.107336387G>A , CM000669.1:g.107336387G>A	GRCh37
NC_000007.12:g.107123623G>A	NCBI36
NG_008489.1:g.40308G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1447G>A MANE Select	ENSP00000494017.1:p.Val483Met
ENST00000644846.1:c.158G>A
ENST00000265715.7:c.1447G>A	ENSP00000265715.3:p.Val483Met
ENST00000460748.1:n.550G>A
ENST00000477350.5:n.294G>A
ENST00000480841.5:n.296G>A
ENST00000497446.5:n.462G>A
NM_000441.1:c.1447G>A	NP_000432.1:p.Val483Met
XM_005250425.1:c.1447G>A	XP_005250482.1:p.Val483Met
XM_005250425.2:c.1447G>A	XP_005250482.1:p.Val483Met
XM_017012318.1:c.1369G>A	XP_016867807.1:p.Val457Met
NM_000441.2:c.1447G>A MANE Select	NP_000432.1:p.Val483Met