Canonical Allele Identifier: CA91794607
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs559859095
gnomAD v3: 4-6291556-G-A
gnomAD v4: 4-6291556-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291556G>A , CM000666.2:g.6291556G>A GRCh38
NC_000004.11:g.6293283G>A , CM000666.1:g.6293283G>A GRCh37
NC_000004.10:g.6344184G>A NCBI36
NG_011700.1:g.26707G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.631+189G>A ENSP00000507852.1:n.631+189G>A
ENST00000683395.1:c.608+202G>A
ENST00000684087.1:c.631+189G>A ENSP00000506978.1:n.631+189G>A
ENST00000684700.1:c.*115G>A ENSP00000507806.1:n.*115G>A
ENST00000506362.2:c.382+189G>A ENSP00000424103.2:n.382+189G>A
ENST00000673642.1:c.430+189G>A ENSP00000501242.1:n.430+189G>A
ENST00000673991.1:c.631+189G>A ENSP00000501033.1:n.631+189G>A
ENST00000226760.5:c.631+189G>A MANE Select ENSP00000226760.1:n.631+189G>A
ENST00000503569.5:c.631+189G>A ENSP00000423337.1:n.631+189G>A
ENST00000506362.1:c.228+189G>A
ENST00000507765.1:n.816+189G>A
NM_001145853.1:c.631+189G>A NP_001139325.1:n.631+189G>A
NM_006005.3:c.631+189G>A MANE Select NP_005996.2:n.631+189G>A
XM_017008586.1:c.640+189G>A XP_016864075.1:n.640+189G>A