Canonical Allele Identifier: CA356172467

Gene: WFS1

Linked Data

• ClinVar Variation Id: 505263
• ClinVar RCV Id: RCV000612590 ; RCV002509466
• dbSNP Id: rs1553877330
• MyVariant Identifiers: chr4:g.6296809A>G (hg19) ; chr4:g.6295082A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6295082A>G , CM000666.2:g.6295082A>G	GRCh38
NC_000004.11:g.6296809A>G , CM000666.1:g.6296809A>G	GRCh37
NC_000004.10:g.6347710A>G	NCBI36
NG_011700.1:g.30233A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.790A>G	ENSP00000507852.1:p.Lys264Glu
ENST00000683395.1:c.731A>G
ENST00000684087.1:c.754A>G	ENSP00000506978.1:p.Lys252Glu
ENST00000506362.2:c.505A>G	ENSP00000424103.2:p.Lys169Glu
ENST00000673642.1:c.553A>G	ENSP00000501242.1:p.Lys185Glu
ENST00000673991.1:c.790A>G	ENSP00000501033.1:p.Lys264Glu
ENST00000226760.5:c.754A>G MANE Select	ENSP00000226760.1:p.Lys252Glu
ENST00000503569.5:c.754A>G	ENSP00000423337.1:p.Lys252Glu
ENST00000506362.1:c.387A>G
ENST00000507765.1:n.939A>G
ENST00000513395.1:n.312A>G
NM_001145853.1:c.754A>G	NP_001139325.1:p.Lys252Glu
NM_006005.3:c.754A>G MANE Select	NP_005996.2:p.Lys252Glu
XM_017008586.1:c.763A>G	XP_016864075.1:p.Lys255Glu