Canonical Allele Identifier: CA4432768

Gene: SLC26A4

Linked Data

• dbSNP Id: rs765939287
• ExAC: 7:107334864 C / G
• gnomAD v2: 7-107334864-C-G
• gnomAD v4: 7-107694419-C-G
• MyVariant Identifiers: chr7:g.107334864C>G (hg19) ; chr7:g.107694419C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694419C>G , CM000669.2:g.107694419C>G	GRCh38
NC_000007.13:g.107334864C>G , CM000669.1:g.107334864C>G	GRCh37
NC_000007.12:g.107122100C>G	NCBI36
NG_008489.1:g.38785C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1280C>G MANE Select	ENSP00000494017.1:p.Ser427Cys
ENST00000265715.7:c.1280C>G	ENSP00000265715.3:p.Ser427Cys
ENST00000460748.1:n.383C>G
ENST00000477350.5:n.189-202C>G
ENST00000480841.5:n.129C>G
ENST00000497446.5:n.295C>G
NM_000441.1:c.1280C>G	NP_000432.1:p.Ser427Cys
XM_005250425.1:c.1280C>G	XP_005250482.1:p.Ser427Cys
XM_005250425.2:c.1280C>G	XP_005250482.1:p.Ser427Cys
XM_017012318.1:c.1264-202C>G	XP_016867807.1:n.1264-202C>G
NM_000441.2:c.1280C>G MANE Select	NP_000432.1:p.Ser427Cys