Canonical Allele Identifier: CA549420838
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1304266133
gnomAD v2: 4-6271144-T-G
gnomAD v3: 4-6269417-T-G
gnomAD v4: 4-6269417-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6269417T>G , CM000666.2:g.6269417T>G GRCh38
NC_000004.11:g.6271144T>G , CM000666.1:g.6271144T>G GRCh37
NC_000004.10:g.6322045T>G NCBI36
NG_011700.1:g.4568T>G

Transcript Alleles

HGVS Amino-acid change
XM_017008586.1:c.4+7778T>G XP_016864075.1:n.4+7778T>G