Canonical Allele Identifier: CA91796238

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2992909
• ClinVar RCV Id: RCV003858020
• dbSNP Id: rs184573849
• gnomAD v3: 4-6301023-C-T
• gnomAD v4: 4-6301023-C-T
• MyVariant Identifiers: chr4:g.6302750C>T (hg19) ; chr4:g.6301023C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301023C>T , CM000666.2:g.6301023C>T	GRCh38
NC_000004.11:g.6302750C>T , CM000666.1:g.6302750C>T	GRCh37
NC_000004.10:g.6353651C>T	NCBI36
NG_011700.1:g.36174C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1264C>T	ENSP00000507852.1:p.Leu422Phe
ENST00000683395.1:c.1205C>T
ENST00000684087.1:c.1228C>T	ENSP00000506978.1:p.Leu410Phe
ENST00000506362.2:c.979C>T	ENSP00000424103.2:p.Leu327Phe
ENST00000673642.1:c.887C>T	ENSP00000501242.1:p.Ala296Val
ENST00000673991.1:c.1264C>T	ENSP00000501033.1:p.Leu422Phe
ENST00000226760.5:c.1228C>T MANE Select	ENSP00000226760.1:p.Leu410Phe
ENST00000503569.5:c.1228C>T	ENSP00000423337.1:p.Leu410Phe
ENST00000507765.1:n.1413C>T
NM_001145853.1:c.1228C>T	NP_001139325.1:p.Leu410Phe
NM_006005.3:c.1228C>T MANE Select	NP_005996.2:p.Leu410Phe
XM_017008586.1:c.1237C>T	XP_016864075.1:p.Leu413Phe