Canonical Allele Identifier: CA2838910

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2734642
• ClinVar RCV Id: RCV003555140
• dbSNP Id: rs762665942
• ExAC: 4:6292930 C / T
• gnomAD v2: 4-6292930-C-T
• gnomAD v3: 4-6291203-C-T
• gnomAD v4: 4-6291203-C-T
• MyVariant Identifiers: chr4:g.6292930C>T (hg19) ; chr4:g.6291203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291203C>T , CM000666.2:g.6291203C>T	GRCh38
NC_000004.11:g.6292930C>T , CM000666.1:g.6292930C>T	GRCh37
NC_000004.10:g.6343831C>T	NCBI36
NG_011700.1:g.26354C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.467C>T	ENSP00000507852.1:p.Thr156Met
ENST00000683395.1:c.457C>T
ENST00000684087.1:c.467C>T	ENSP00000506978.1:p.Thr156Met
ENST00000684700.1:c.467C>T	ENSP00000507806.1:p.Thr156Met
ENST00000506362.2:c.218C>T	ENSP00000424103.2:p.Thr73Met
ENST00000673642.1:c.266C>T	ENSP00000501242.1:p.Thr89Met
ENST00000673991.1:c.467C>T	ENSP00000501033.1:p.Thr156Met
ENST00000674051.1:c.341C>T	ENSP00000501083.1:p.Thr114Met
ENST00000226760.5:c.467C>T MANE Select	ENSP00000226760.1:p.Thr156Met
ENST00000503569.5:c.467C>T	ENSP00000423337.1:p.Thr156Met
ENST00000506362.1:c.64C>T
ENST00000507765.1:n.652C>T
NM_001145853.1:c.467C>T	NP_001139325.1:p.Thr156Met
NM_006005.3:c.467C>T MANE Select	NP_005996.2:p.Thr156Met
XM_017008586.1:c.476C>T	XP_016864075.1:p.Thr159Met