Canonical Allele Identifier: CA2839183

Gene: WFS1

Linked Data

• ClinVar Variation Id: 229648
• ClinVar RCV Id: RCV000220517 ; RCV001325067 ; RCV002485411 ; RCV002509310 ; RCV004020642
• dbSNP Id: rs144888979
• ExAC: 4:6302513 T / A
• gnomAD v2: 4-6302513-T-A
• gnomAD v3: 4-6300786-T-A
• gnomAD v4: 4-6300786-T-A
• MyVariant Identifiers: chr4:g.6302513T>A (hg19) ; chr4:g.6300786T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300786T>A , CM000666.2:g.6300786T>A	GRCh38
NC_000004.11:g.6302513T>A , CM000666.1:g.6302513T>A	GRCh37
NC_000004.10:g.6353414T>A	NCBI36
NG_011700.1:g.35937T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1027T>A	ENSP00000507852.1:p.Phe343Ile
ENST00000683395.1:c.968T>A
ENST00000684087.1:c.991T>A	ENSP00000506978.1:p.Phe331Ile
ENST00000506362.2:c.742T>A	ENSP00000424103.2:p.Phe248Ile
ENST00000673642.1:c.661-11T>A	ENSP00000501242.1:n.661-11T>A
ENST00000673991.1:c.1027T>A	ENSP00000501033.1:p.Phe343Ile
ENST00000226760.5:c.991T>A MANE Select	ENSP00000226760.1:p.Phe331Ile
ENST00000503569.5:c.991T>A	ENSP00000423337.1:p.Phe331Ile
ENST00000506362.1:c.624T>A
ENST00000507765.1:n.1176T>A
ENST00000513395.1:n.549T>A
NM_001145853.1:c.991T>A	NP_001139325.1:p.Phe331Ile
NM_006005.3:c.991T>A MANE Select	NP_005996.2:p.Phe331Ile
XM_017008586.1:c.1000T>A	XP_016864075.1:p.Phe334Ile