Canonical Allele Identifier: CA2839159

Gene: WFS1

Linked Data

• ClinVar Variation Id: 3029097
• ClinVar RCV Id: RCV004539217
• dbSNP Id: rs375146413
• ExAC: 4:6302451 C / T
• gnomAD v2: 4-6302451-C-T
• gnomAD v3: 4-6300724-C-T
• gnomAD v4: 4-6300724-C-T
• MyVariant Identifiers: chr4:g.6302451C>T (hg19) ; chr4:g.6300724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300724C>T , CM000666.2:g.6300724C>T	GRCh38
NC_000004.11:g.6302451C>T , CM000666.1:g.6302451C>T	GRCh37
NC_000004.10:g.6353352C>T	NCBI36
NG_011700.1:g.35875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.965C>T	ENSP00000507852.1:p.Ala322Val
ENST00000683395.1:c.906C>T
ENST00000684087.1:c.929C>T	ENSP00000506978.1:p.Ala310Val
ENST00000506362.2:c.680C>T	ENSP00000424103.2:p.Ala227Val
ENST00000673642.1:c.661-73C>T	ENSP00000501242.1:n.661-73C>T
ENST00000673991.1:c.965C>T	ENSP00000501033.1:p.Ala322Val
ENST00000226760.5:c.929C>T MANE Select	ENSP00000226760.1:p.Ala310Val
ENST00000503569.5:c.929C>T	ENSP00000423337.1:p.Ala310Val
ENST00000506362.1:c.562C>T
ENST00000507765.1:n.1114C>T
ENST00000513395.1:n.487C>T
NM_001145853.1:c.929C>T	NP_001139325.1:p.Ala310Val
NM_006005.3:c.929C>T MANE Select	NP_005996.2:p.Ala310Val
XM_017008586.1:c.938C>T	XP_016864075.1:p.Ala313Val