Canonical Allele Identifier: CA2839383

Gene: WFS1

Linked Data

• dbSNP Id: rs773684789
• ExAC: 4:6303028 C / A
• gnomAD v2: 4-6303028-C-A
• gnomAD v4: 4-6301301-C-A
• MyVariant Identifiers: chr4:g.6303028C>A (hg19) ; chr4:g.6301301C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301301C>A , CM000666.2:g.6301301C>A	GRCh38
NC_000004.11:g.6303028C>A , CM000666.1:g.6303028C>A	GRCh37
NC_000004.10:g.6353929C>A	NCBI36
NG_011700.1:g.36452C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1542C>A	ENSP00000507852.1:p.Ser514Arg
ENST00000683395.1:c.1483C>A
ENST00000684087.1:c.1506C>A	ENSP00000506978.1:p.Ser502Arg
ENST00000506362.2:c.1257C>A	ENSP00000424103.2:p.Ser419Arg
ENST00000673642.1:c.1165C>A	ENSP00000501242.1:p.Arg389Ser
ENST00000673991.1:c.1542C>A	ENSP00000501033.1:p.Ser514Arg
ENST00000226760.5:c.1506C>A MANE Select	ENSP00000226760.1:p.Ser502Arg
ENST00000503569.5:c.1506C>A	ENSP00000423337.1:p.Ser502Arg
ENST00000507765.1:n.1691C>A
NM_001145853.1:c.1506C>A	NP_001139325.1:p.Ser502Arg
NM_006005.3:c.1506C>A MANE Select	NP_005996.2:p.Ser502Arg
XM_017008586.1:c.1515C>A	XP_016864075.1:p.Ser505Arg