Canonical Allele Identifier: CA549420832
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1208924631
gnomAD v2: 4-6270953-G-GC
gnomAD v3: 4-6269226-G-GC
gnomAD v4: 4-6269226-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6269229dup , CM000666.2:g.6269229dup GRCh38
NC_000004.11:g.6270956dup , CM000666.1:g.6270956dup GRCh37
NC_000004.10:g.6321857dup NCBI36
NG_011700.1:g.4380dup

Transcript Alleles

HGVS Amino-acid change
XM_017008586.1:c.4+7590dup XP_016864075.1:n.4+7590dup