Canonical Allele Identifier: CA182620

Gene: WFS1

Linked Data

• ClinVar Variation Id: 178592
• ClinVar RCV Id: RCV000155341 ; RCV001503148 ; RCV002498752 ; RCV003126553
• dbSNP Id: rs146027767
• ExAC: 4:6302992 C / T
• gnomAD v2: 4-6302992-C-T
• gnomAD v3: 4-6301265-C-T
• gnomAD v4: 4-6301265-C-T
• MyVariant Identifiers: chr4:g.6302992C>T (hg19) ; chr4:g.6301265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301265C>T , CM000666.2:g.6301265C>T	GRCh38
NC_000004.11:g.6302992C>T , CM000666.1:g.6302992C>T	GRCh37
NC_000004.10:g.6353893C>T	NCBI36
NG_011700.1:g.36416C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1506C>T	ENSP00000507852.1:p.Thr502=
ENST00000683395.1:c.1447C>T
ENST00000684087.1:c.1470C>T	ENSP00000506978.1:p.Thr490=
ENST00000506362.2:c.1221C>T	ENSP00000424103.2:p.Thr407=
ENST00000673642.1:c.1129C>T	ENSP00000501242.1:p.Arg377Cys
ENST00000673991.1:c.1506C>T	ENSP00000501033.1:p.Thr502=
ENST00000226760.5:c.1470C>T MANE Select	ENSP00000226760.1:p.Thr490=
ENST00000503569.5:c.1470C>T	ENSP00000423337.1:p.Thr490=
ENST00000507765.1:n.1655C>T
NM_001145853.1:c.1470C>T	NP_001139325.1:p.Thr490=
NM_006005.3:c.1470C>T MANE Select	NP_005996.2:p.Thr490=
XM_017008586.1:c.1479C>T	XP_016864075.1:p.Thr493=