Canonical Allele Identifier: CA356179417

Gene: WFS1

Linked Data

• ClinVar Variation Id: 452384
• ClinVar RCV Id: RCV000518978 ; RCV003147503
• dbSNP Id: rs1553879087
• gnomAD v4: 4-6302395-G-A
• MyVariant Identifiers: chr4:g.6304122G>A (hg19) ; chr4:g.6302395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302395G>A , CM000666.2:g.6302395G>A	GRCh38
NC_000004.11:g.6304122G>A , CM000666.1:g.6304122G>A	GRCh37
NC_000004.10:g.6355023G>A	NCBI36
NG_011700.1:g.37546G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2636G>A	ENSP00000507852.1:p.Trp879Ter
ENST00000683395.1:c.2577G>A
ENST00000684087.1:c.2600G>A	ENSP00000506978.1:p.Trp867Ter
ENST00000506362.2:c.2351G>A	ENSP00000424103.2:p.Trp784Ter
ENST00000673991.1:c.2636G>A	ENSP00000501033.1:p.Trp879Ter
ENST00000226760.5:c.2600G>A MANE Select	ENSP00000226760.1:p.Trp867Ter
ENST00000503569.5:c.2600G>A	ENSP00000423337.1:p.Trp867Ter
ENST00000507765.1:n.2785G>A
NM_001145853.1:c.2600G>A	NP_001139325.1:p.Trp867Ter
NM_006005.3:c.2600G>A MANE Select	NP_005996.2:p.Trp867Ter
XM_017008586.1:c.2609G>A	XP_016864075.1:p.Trp870Ter