Canonical Allele Identifier: CA368843744

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1214052486
• COSMIC: COSM1083878
• MyVariant Identifiers: chr7:g.107342440C>A (hg19) ; chr7:g.107701995C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701995C>A , CM000669.2:g.107701995C>A	GRCh38
NC_000007.13:g.107342440C>A , CM000669.1:g.107342440C>A	GRCh37
NC_000007.12:g.107129676C>A	NCBI36
NG_008489.1:g.46361C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1972C>A MANE Select	ENSP00000494017.1:p.Leu658Ile
ENST00000644846.1:c.683C>A
ENST00000265715.7:c.1972C>A	ENSP00000265715.3:p.Leu658Ile
ENST00000492030.2:n.259C>A
NM_000441.1:c.1972C>A	NP_000432.1:p.Leu658Ile
XM_005250425.1:c.1972C>A	XP_005250482.1:p.Leu658Ile
XM_005250425.2:c.1972C>A	XP_005250482.1:p.Leu658Ile
XM_017012318.1:c.1894C>A	XP_016867807.1:p.Leu632Ile
NM_000441.2:c.1972C>A MANE Select	NP_000432.1:p.Leu658Ile