Canonical Allele Identifier: CA356175780

Gene: WFS1

Linked Data

• ClinVar Variation Id: 918063
• ClinVar RCV Id: RCV001175317
• dbSNP Id: rs1445355190
• gnomAD v2: 4-6303036-G-A
• gnomAD v4: 4-6301309-G-A
• MyVariant Identifiers: chr4:g.6303036G>A (hg19) ; chr4:g.6303036_6303051delinsACCTGCTCTATGTCTA (hg19) ; chr4:g.6301309G>A (hg38) ; chr4:g.6301309_6301324delinsACCTGCTCTATGTCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301309G>A , CM000666.2:g.6301309G>A	GRCh38
NC_000004.11:g.6303036G>A , CM000666.1:g.6303036G>A	GRCh37
NC_000004.10:g.6353937G>A	NCBI36
NG_011700.1:g.36460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1550G>A	ENSP00000507852.1:p.Cys517Tyr
ENST00000683395.1:c.1491G>A
ENST00000684087.1:c.1514G>A	ENSP00000506978.1:p.Cys505Tyr
ENST00000506362.2:c.1265G>A	ENSP00000424103.2:p.Cys422Tyr
ENST00000673642.1:c.1173G>A	ENSP00000501242.1:p.Val391=
ENST00000673991.1:c.1550G>A	ENSP00000501033.1:p.Cys517Tyr
ENST00000226760.5:c.1514G>A MANE Select	ENSP00000226760.1:p.Cys505Tyr
ENST00000503569.5:c.1514G>A	ENSP00000423337.1:p.Cys505Tyr
ENST00000507765.1:n.1699G>A
NM_001145853.1:c.1514G>A	NP_001139325.1:p.Cys505Tyr
NM_006005.3:c.1514G>A MANE Select	NP_005996.2:p.Cys505Tyr
XM_017008586.1:c.1523G>A	XP_016864075.1:p.Cys508Tyr