Canonical Allele Identifier: CA368841255

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1299447305
• gnomAD v2: 7-107336415-T-G
• gnomAD v4: 7-107695970-T-G
• MyVariant Identifiers: chr7:g.107336415T>G (hg19) ; chr7:g.107695970T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695970T>G , CM000669.2:g.107695970T>G	GRCh38
NC_000007.13:g.107336415T>G , CM000669.1:g.107336415T>G	GRCh37
NC_000007.12:g.107123651T>G	NCBI36
NG_008489.1:g.40336T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1475T>G MANE Select	ENSP00000494017.1:p.Leu492Arg
ENST00000644846.1:c.186T>G
ENST00000265715.7:c.1475T>G	ENSP00000265715.3:p.Leu492Arg
ENST00000477350.5:n.322T>G
ENST00000480841.5:n.324T>G
ENST00000497446.5:n.490T>G
NM_000441.1:c.1475T>G	NP_000432.1:p.Leu492Arg
XM_005250425.1:c.1475T>G	XP_005250482.1:p.Leu492Arg
XM_005250425.2:c.1475T>G	XP_005250482.1:p.Leu492Arg
XM_017012318.1:c.1397T>G	XP_016867807.1:p.Leu466Arg
NM_000441.2:c.1475T>G MANE Select	NP_000432.1:p.Leu492Arg