Canonical Allele Identifier: CA797128098
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1474023034
gnomAD v3: 4-6291674-A-C
gnomAD v4: 4-6291674-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291674A>C , CM000666.2:g.6291674A>C GRCh38
NC_000004.11:g.6293401A>C , CM000666.1:g.6293401A>C GRCh37
NC_000004.10:g.6344302A>C NCBI36
NG_011700.1:g.26825A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.632-243A>C ENSP00000507852.1:n.632-243A>C
ENST00000683395.1:c.609-243A>C
ENST00000684087.1:c.632-243A>C ENSP00000506978.1:n.632-243A>C
ENST00000506362.2:c.383-243A>C ENSP00000424103.2:n.383-243A>C
ENST00000673642.1:c.431-243A>C ENSP00000501242.1:n.431-243A>C
ENST00000673991.1:c.632-243A>C ENSP00000501033.1:n.632-243A>C
ENST00000226760.5:c.632-243A>C MANE Select ENSP00000226760.1:n.632-243A>C
ENST00000503569.5:c.632-243A>C ENSP00000423337.1:n.632-243A>C
ENST00000506362.1:c.229-243A>C
ENST00000507765.1:n.817-243A>C
NM_001145853.1:c.632-243A>C NP_001139325.1:n.632-243A>C
NM_006005.3:c.632-243A>C MANE Select NP_005996.2:n.632-243A>C
XM_017008586.1:c.641-243A>C XP_016864075.1:n.641-243A>C