Canonical Allele Identifier: CA2669826072

Gene: WFS1

Linked Data

• gnomAD v4: 4-6291490-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291490C>T , CM000666.2:g.6291490C>T	GRCh38
NC_000004.11:g.6293217C>T , CM000666.1:g.6293217C>T	GRCh37
NC_000004.10:g.6344118C>T	NCBI36
NG_011700.1:g.26641C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.631+123C>T	ENSP00000507852.1:n.631+123C>T
ENST00000683395.1:c.608+136C>T
ENST00000684087.1:c.631+123C>T	ENSP00000506978.1:n.631+123C>T
ENST00000684700.1:c.*49C>T	ENSP00000507806.1:n.*49C>T
ENST00000506362.2:c.382+123C>T	ENSP00000424103.2:n.382+123C>T
ENST00000673642.1:c.430+123C>T	ENSP00000501242.1:n.430+123C>T
ENST00000673991.1:c.631+123C>T	ENSP00000501033.1:n.631+123C>T
ENST00000226760.5:c.631+123C>T MANE Select	ENSP00000226760.1:n.631+123C>T
ENST00000503569.5:c.631+123C>T	ENSP00000423337.1:n.631+123C>T
ENST00000506362.1:c.228+123C>T
ENST00000507765.1:n.816+123C>T
NM_001145853.1:c.631+123C>T	NP_001139325.1:n.631+123C>T
NM_006005.3:c.631+123C>T MANE Select	NP_005996.2:n.631+123C>T
XM_017008586.1:c.640+123C>T	XP_016864075.1:n.640+123C>T