Canonical Allele Identifier: CA10576640

Gene: WFS1

Linked Data

• ClinVar Variation Id: 229640
• ClinVar RCV Id: RCV000215408 ; RCV000344712 ; RCV000385208 ; RCV001092548 ; RCV003128236
• dbSNP Id: rs876658119
• gnomAD v2: 4-6303807-A-G
• gnomAD v4: 4-6302080-A-G
• MyVariant Identifiers: chr4:g.6303807A>G (hg19) ; chr4:g.6302080A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302080A>G , CM000666.2:g.6302080A>G	GRCh38
NC_000004.11:g.6303807A>G , CM000666.1:g.6303807A>G	GRCh37
NC_000004.10:g.6354708A>G	NCBI36
NG_011700.1:g.37231A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2321A>G	ENSP00000507852.1:p.Lys774Arg
ENST00000683395.1:c.2262A>G
ENST00000684087.1:c.2285A>G	ENSP00000506978.1:p.Lys762Arg
ENST00000506362.2:c.2036A>G	ENSP00000424103.2:p.Lys679Arg
ENST00000673642.1:c.1944A>G	ENSP00000501242.1:n.1944A>G
ENST00000673991.1:c.2321A>G	ENSP00000501033.1:p.Lys774Arg
ENST00000226760.5:c.2285A>G MANE Select	ENSP00000226760.1:p.Lys762Arg
ENST00000503569.5:c.2285A>G	ENSP00000423337.1:p.Lys762Arg
ENST00000507765.1:n.2470A>G
NM_001145853.1:c.2285A>G	NP_001139325.1:p.Lys762Arg
NM_006005.3:c.2285A>G MANE Select	NP_005996.2:p.Lys762Arg
XM_017008586.1:c.2294A>G	XP_016864075.1:p.Lys765Arg