Canonical Allele Identifier: CA549420834
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1182501164
gnomAD v2: 4-6271001-G-A
gnomAD v3: 4-6269274-G-A
gnomAD v4: 4-6269274-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6269274G>A , CM000666.2:g.6269274G>A GRCh38
NC_000004.11:g.6271001G>A , CM000666.1:g.6271001G>A GRCh37
NC_000004.10:g.6321902G>A NCBI36
NG_011700.1:g.4425G>A

Transcript Alleles

HGVS Amino-acid change
XM_017008586.1:c.4+7635G>A XP_016864075.1:n.4+7635G>A