Canonical Allele Identifier: CA91796940
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2734647
ClinVar RCV Id: RCV003555145
dbSNP Id: rs71532864
gnomAD v2: 4-6303728-G-C
gnomAD v3: 4-6302001-G-C
gnomAD v4: 4-6302001-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302001G>C , CM000666.2:g.6302001G>C GRCh38
NC_000004.11:g.6303728G>C , CM000666.1:g.6303728G>C GRCh37
NC_000004.10:g.6354629G>C NCBI36
NG_011700.1:g.37152G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2242G>C ENSP00000507852.1:p.Gly748Arg
ENST00000683395.1:c.2183G>C
ENST00000684087.1:c.2206G>C ENSP00000506978.1:p.Gly736Arg
ENST00000506362.2:c.1957G>C ENSP00000424103.2:p.Gly653Arg
ENST00000673642.1:c.1865G>C ENSP00000501242.1:n.1865G>C
ENST00000673991.1:c.2242G>C ENSP00000501033.1:p.Gly748Arg
ENST00000226760.5:c.2206G>C MANE Select ENSP00000226760.1:p.Gly736Arg
ENST00000503569.5:c.2206G>C ENSP00000423337.1:p.Gly736Arg
ENST00000507765.1:n.2391G>C
NM_001145853.1:c.2206G>C NP_001139325.1:p.Gly736Arg
NM_006005.3:c.2206G>C MANE Select NP_005996.2:p.Gly736Arg
XM_017008586.1:c.2215G>C XP_016864075.1:p.Gly739Arg