Canonical Allele Identifier: CA2839199

Gene: WFS1

Linked Data

• ClinVar Variation Id: 994102
• ClinVar RCV Id: RCV001776169 ; RCV002493510 ; RCV002509650
• dbSNP Id: rs143886476
• ExAC: 4:6302560 G / A
• gnomAD v2: 4-6302560-G-A
• gnomAD v3: 4-6300833-G-A
• gnomAD v4: 4-6300833-G-A
• MyVariant Identifiers: chr4:g.6302560G>A (hg19) ; chr4:g.6300833G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300833G>A , CM000666.2:g.6300833G>A	GRCh38
NC_000004.11:g.6302560G>A , CM000666.1:g.6302560G>A	GRCh37
NC_000004.10:g.6353461G>A	NCBI36
NG_011700.1:g.35984G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1074G>A	ENSP00000507852.1:p.Pro358=
ENST00000683395.1:c.1015G>A
ENST00000684087.1:c.1038G>A	ENSP00000506978.1:p.Pro346=
ENST00000506362.2:c.789G>A	ENSP00000424103.2:p.Pro263=
ENST00000673642.1:c.697G>A	ENSP00000501242.1:p.Ala233Thr
ENST00000673991.1:c.1074G>A	ENSP00000501033.1:p.Pro358=
ENST00000226760.5:c.1038G>A MANE Select	ENSP00000226760.1:p.Pro346=
ENST00000503569.5:c.1038G>A	ENSP00000423337.1:p.Pro346=
ENST00000506362.1:c.671G>A
ENST00000507765.1:n.1223G>A
NM_001145853.1:c.1038G>A	NP_001139325.1:p.Pro346=
NM_006005.3:c.1038G>A MANE Select	NP_005996.2:p.Pro346=
XM_017008586.1:c.1047G>A	XP_016864075.1:p.Pro349=