Canonical Allele Identifier: CA356179259

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2849295
• ClinVar RCV Id: RCV003695650
• MyVariant Identifiers: chr4:g.6304089C>G (hg19) ; chr4:g.6302362C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302362C>G , CM000666.2:g.6302362C>G	GRCh38
NC_000004.11:g.6304089C>G , CM000666.1:g.6304089C>G	GRCh37
NC_000004.10:g.6354990C>G	NCBI36
NG_011700.1:g.37513C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2603C>G	ENSP00000507852.1:p.Pro868Arg
ENST00000683395.1:c.2544C>G
ENST00000684087.1:c.2567C>G	ENSP00000506978.1:p.Pro856Arg
ENST00000506362.2:c.2318C>G	ENSP00000424103.2:p.Pro773Arg
ENST00000673991.1:c.2603C>G	ENSP00000501033.1:p.Pro868Arg
ENST00000226760.5:c.2567C>G MANE Select	ENSP00000226760.1:p.Pro856Arg
ENST00000503569.5:c.2567C>G	ENSP00000423337.1:p.Pro856Arg
ENST00000507765.1:n.2752C>G
NM_001145853.1:c.2567C>G	NP_001139325.1:p.Pro856Arg
NM_006005.3:c.2567C>G MANE Select	NP_005996.2:p.Pro856Arg
XM_017008586.1:c.2576C>G	XP_016864075.1:p.Pro859Arg