Canonical Allele Identifier: CA91798408

Gene: WFS1

Linked Data

• dbSNP Id: rs572689423
• gnomAD v2: 4-6304718-C-G
• gnomAD v3: 4-6302991-C-G
• gnomAD v4: 4-6302991-C-G
• MyVariant Identifiers: chr4:g.6304718C>G (hg19) ; chr4:g.6302991C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302991C>G , CM000666.2:g.6302991C>G	GRCh38
NC_000004.11:g.6304718C>G , CM000666.1:g.6304718C>G	GRCh37
NC_000004.10:g.6355619C>G	NCBI36
NG_011700.1:g.38142C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*523C>G	ENSP00000507852.1:n.*523C>G
ENST00000683395.1:c.3173C>G
ENST00000684087.1:c.*523C>G	ENSP00000506978.1:n.*523C>G
ENST00000673991.1:c.*523C>G	ENSP00000501033.1:n.*523C>G
ENST00000226760.5:c.*523C>G MANE Select	ENSP00000226760.1:n.*523C>G
ENST00000507765.1:n.3381C>G
NM_001145853.1:c.*523C>G	NP_001139325.1:n.*523C>G
NM_006005.3:c.*523C>G MANE Select	NP_005996.2:n.*523C>G
XM_017008586.1:c.*523C>G	XP_016864075.1:n.*523C>G
XR_001741566.2:n.1954G>C