Canonical Allele Identifier: CA549420833
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs369964447
gnomAD v2: 4-6270989-C-T
gnomAD v3: 4-6269262-C-T
gnomAD v4: 4-6269262-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6269262C>T , CM000666.2:g.6269262C>T GRCh38
NC_000004.11:g.6270989C>T , CM000666.1:g.6270989C>T GRCh37
NC_000004.10:g.6321890C>T NCBI36
NG_011700.1:g.4413C>T

Transcript Alleles

HGVS Amino-acid Change
XM_017008586.1:c.4+7623C>T XP_016864075.1:n.4+7623C>T