Canonical Allele Identifier: CA2578035705

Gene: WFS1

Linked Data

• gnomAD v4: 4-6277701-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6277701C>G , CM000666.2:g.6277701C>G	GRCh38
NC_000004.11:g.6279428C>G , CM000666.1:g.6279428C>G	GRCh37
NC_000004.10:g.6330329C>G	NCBI36
NG_011700.1:g.12852C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506588.6:n.402+14C>G
ENST00000682059.1:c.232+14C>G	ENSP00000507988.1:n.232+14C>G
ENST00000682275.1:c.232+14C>G	ENSP00000507852.1:n.232+14C>G
ENST00000683395.1:c.222+14C>G
ENST00000684054.1:c.232+14C>G	ENSP00000507120.1:n.232+14C>G
ENST00000684087.1:c.232+14C>G	ENSP00000506978.1:n.232+14C>G
ENST00000684700.1:c.232+14C>G	ENSP00000507806.1:n.232+14C>G
ENST00000506362.2:c.-18+7687C>G	ENSP00000424103.2:n.-18+7687C>G
ENST00000673642.1:c.31+14C>G	ENSP00000501242.1:n.31+14C>G
ENST00000673991.1:c.232+14C>G	ENSP00000501033.1:n.232+14C>G
ENST00000674051.1:c.106+14C>G	ENSP00000501083.1:n.106+14C>G
ENST00000226760.5:c.232+14C>G MANE Select	ENSP00000226760.1:n.232+14C>G
ENST00000503569.5:c.232+14C>G	ENSP00000423337.1:n.232+14C>G
ENST00000506588.5:n.402+14C>G
NM_001145853.1:c.232+14C>G	NP_001139325.1:n.232+14C>G
NM_006005.3:c.232+14C>G MANE Select	NP_005996.2:n.232+14C>G
XM_017008586.1:c.241+14C>G	XP_016864075.1:n.241+14C>G