Canonical Allele Identifier: CA797127351
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1470661050
gnomAD v3: 4-6291088-C-A
gnomAD v4: 4-6291088-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291088C>A , CM000666.2:g.6291088C>A GRCh38
NC_000004.11:g.6292815C>A , CM000666.1:g.6292815C>A GRCh37
NC_000004.10:g.6343716C>A NCBI36
NG_011700.1:g.26239C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.461-109C>A ENSP00000507852.1:n.461-109C>A
ENST00000683395.1:c.451-109C>A
ENST00000684087.1:c.461-109C>A ENSP00000506978.1:n.461-109C>A
ENST00000684700.1:c.461-109C>A ENSP00000507806.1:n.461-109C>A
ENST00000506362.2:c.212-109C>A ENSP00000424103.2:n.212-109C>A
ENST00000673642.1:c.260-109C>A ENSP00000501242.1:n.260-109C>A
ENST00000673991.1:c.461-109C>A ENSP00000501033.1:n.461-109C>A
ENST00000674051.1:c.335-109C>A ENSP00000501083.1:n.335-109C>A
ENST00000226760.5:c.461-109C>A MANE Select ENSP00000226760.1:n.461-109C>A
ENST00000503569.5:c.461-109C>A ENSP00000423337.1:n.461-109C>A
ENST00000506362.1:c.58-109C>A
ENST00000507765.1:n.646-109C>A
NM_001145853.1:c.461-109C>A NP_001139325.1:n.461-109C>A
NM_006005.3:c.461-109C>A MANE Select NP_005996.2:n.461-109C>A
XM_017008586.1:c.470-109C>A XP_016864075.1:n.470-109C>A