Canonical Allele Identifier: CA368843196

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1562839444
• gnomAD v4: 7-107701855-C-G
• MyVariant Identifiers: chr7:g.107342300C>G (hg19) ; chr7:g.107701855C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701855C>G , CM000669.2:g.107701855C>G	GRCh38
NC_000007.13:g.107342300C>G , CM000669.1:g.107342300C>G	GRCh37
NC_000007.12:g.107129536C>G	NCBI36
NG_008489.1:g.46221C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1832C>G MANE Select	ENSP00000494017.1:p.Thr611Arg
ENST00000644846.1:c.543C>G
ENST00000265715.7:c.1832C>G	ENSP00000265715.3:p.Thr611Arg
ENST00000480841.5:n.681C>G
ENST00000492030.2:n.119C>G
NM_000441.1:c.1832C>G	NP_000432.1:p.Thr611Arg
XM_005250425.1:c.1832C>G	XP_005250482.1:p.Thr611Arg
XM_005250425.2:c.1832C>G	XP_005250482.1:p.Thr611Arg
XM_017012318.1:c.1754C>G	XP_016867807.1:p.Thr585Arg
NM_000441.2:c.1832C>G MANE Select	NP_000432.1:p.Thr611Arg