Canonical Allele Identifier: CA438368279

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2144960
• ClinVar RCV Id: RCV003071196
• gnomAD v4: 4-6302168-C-T
• MyVariant Identifiers: chr4:g.6303895C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302168C>T , CM000666.2:g.6302168C>T	GRCh38
NC_000004.11:g.6303895C>T , CM000666.1:g.6303895C>T	GRCh37
NC_000004.10:g.6354796C>T	NCBI36
NG_011700.1:g.37319C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2409C>T	ENSP00000507852.1:p.Arg803=
ENST00000683395.1:c.2350C>T
ENST00000684087.1:c.2373C>T	ENSP00000506978.1:p.Arg791=
ENST00000506362.2:c.2124C>T	ENSP00000424103.2:p.Arg708=
ENST00000673991.1:c.2409C>T	ENSP00000501033.1:p.Arg803=
ENST00000226760.5:c.2373C>T MANE Select	ENSP00000226760.1:p.Arg791=
ENST00000503569.5:c.2373C>T	ENSP00000423337.1:p.Arg791=
ENST00000507765.1:n.2558C>T
NM_001145853.1:c.2373C>T	NP_001139325.1:p.Arg791=
NM_006005.3:c.2373C>T MANE Select	NP_005996.2:p.Arg791=
XM_017008586.1:c.2382C>T	XP_016864075.1:p.Arg794=