Canonical Allele Identifier: CA322818

Gene: WFS1

Linked Data

• ClinVar Variation Id: 215392
• ClinVar RCV Id: RCV000198315 ; RCV003126589
• dbSNP Id: rs753237278
• MyVariant Identifiers: chr4:g.6303206G>C (hg19) ; chr4:g.6301479G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301479G>C , CM000666.2:g.6301479G>C	GRCh38
NC_000004.11:g.6303206G>C , CM000666.1:g.6303206G>C	GRCh37
NC_000004.10:g.6354107G>C	NCBI36
NG_011700.1:g.36630G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1720G>C	ENSP00000507852.1:p.Gly574Arg
ENST00000683395.1:c.1661G>C
ENST00000684087.1:c.1684G>C	ENSP00000506978.1:p.Gly562Arg
ENST00000506362.2:c.1435G>C	ENSP00000424103.2:p.Gly479Arg
ENST00000673642.1:c.1343G>C	ENSP00000501242.1:n.1343G>C
ENST00000673991.1:c.1720G>C	ENSP00000501033.1:p.Gly574Arg
ENST00000226760.5:c.1684G>C MANE Select	ENSP00000226760.1:p.Gly562Arg
ENST00000503569.5:c.1684G>C	ENSP00000423337.1:p.Gly562Arg
ENST00000507765.1:n.1869G>C
NM_001145853.1:c.1684G>C	NP_001139325.1:p.Gly562Arg
NM_006005.3:c.1684G>C MANE Select	NP_005996.2:p.Gly562Arg
XM_017008586.1:c.1693G>C	XP_016864075.1:p.Gly565Arg