Canonical Allele Identifier: CA1058888873

Gene: WFS1

Linked Data

• dbSNP Id: rs1730466400
• gnomAD v3: 4-6291607-C-T
• gnomAD v4: 4-6291607-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291607C>T , CM000666.2:g.6291607C>T	GRCh38
NC_000004.11:g.6293334C>T , CM000666.1:g.6293334C>T	GRCh37
NC_000004.10:g.6344235C>T	NCBI36
NG_011700.1:g.26758C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.631+240C>T	ENSP00000507852.1:n.631+240C>T
ENST00000683395.1:c.608+253C>T
ENST00000684087.1:c.631+240C>T	ENSP00000506978.1:n.631+240C>T
ENST00000684700.1:c.*166C>T	ENSP00000507806.1:n.*166C>T
ENST00000506362.2:c.382+240C>T	ENSP00000424103.2:n.382+240C>T
ENST00000673642.1:c.430+240C>T	ENSP00000501242.1:n.430+240C>T
ENST00000673991.1:c.631+240C>T	ENSP00000501033.1:n.631+240C>T
ENST00000226760.5:c.631+240C>T MANE Select	ENSP00000226760.1:n.631+240C>T
ENST00000503569.5:c.631+240C>T	ENSP00000423337.1:n.631+240C>T
ENST00000506362.1:c.228+240C>T
ENST00000507765.1:n.816+240C>T
NM_001145853.1:c.631+240C>T	NP_001139325.1:n.631+240C>T
NM_006005.3:c.631+240C>T MANE Select	NP_005996.2:n.631+240C>T
XM_017008586.1:c.640+240C>T	XP_016864075.1:n.640+240C>T