Canonical Allele Identifier: CA179659

Gene: WFS1

Linked Data

• ClinVar Variation Id: 166599
• ClinVar RCV Id: RCV000152683 ; RCV001857526
• dbSNP Id: rs376626985
• gnomAD v2: 4-6303444-C-A
• gnomAD v3: 4-6301717-C-A
• gnomAD v4: 4-6301717-C-A
• MyVariant Identifiers: chr4:g.6303444C>A (hg19) ; chr4:g.6301717C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301717C>A , CM000666.2:g.6301717C>A	GRCh38
NC_000004.11:g.6303444C>A , CM000666.1:g.6303444C>A	GRCh37
NC_000004.10:g.6354345C>A	NCBI36
NG_011700.1:g.36868C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1958C>A	ENSP00000507852.1:p.Thr653Lys
ENST00000683395.1:c.1899C>A
ENST00000684087.1:c.1922C>A	ENSP00000506978.1:p.Thr641Lys
ENST00000506362.2:c.1673C>A	ENSP00000424103.2:p.Thr558Lys
ENST00000673642.1:c.1581C>A	ENSP00000501242.1:n.1581C>A
ENST00000673991.1:c.1958C>A	ENSP00000501033.1:p.Thr653Lys
ENST00000226760.5:c.1922C>A MANE Select	ENSP00000226760.1:p.Thr641Lys
ENST00000503569.5:c.1922C>A	ENSP00000423337.1:p.Thr641Lys
ENST00000507765.1:n.2107C>A
NM_001145853.1:c.1922C>A	NP_001139325.1:p.Thr641Lys
NM_006005.3:c.1922C>A MANE Select	NP_005996.2:p.Thr641Lys
XM_017008586.1:c.1931C>A	XP_016864075.1:p.Thr644Lys