Canonical Allele Identifier: CA91777068
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs528065707
gnomAD v2: 4-6271123-G-C
gnomAD v3: 4-6269396-G-C
gnomAD v4: 4-6269396-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6269396G>C , CM000666.2:g.6269396G>C GRCh38
NC_000004.11:g.6271123G>C , CM000666.1:g.6271123G>C GRCh37
NC_000004.10:g.6322024G>C NCBI36
NG_011700.1:g.4547G>C

Transcript Alleles

HGVS Amino-acid Change
XM_017008586.1:c.4+7757G>C XP_016864075.1:n.4+7757G>C