Canonical Allele Identifier: CA2839393

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2705010
• ClinVar RCV Id: RCV003575222
• dbSNP Id: rs752657099
• ExAC: 4:6303051 A / G
• gnomAD v2: 4-6303051-A-G
• gnomAD v4: 4-6301324-A-G
• MyVariant Identifiers: chr4:g.6303051A>G (hg19) ; chr4:g.6301324A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301324A>G , CM000666.2:g.6301324A>G	GRCh38
NC_000004.11:g.6303051A>G , CM000666.1:g.6303051A>G	GRCh37
NC_000004.10:g.6353952A>G	NCBI36
NG_011700.1:g.36475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1565A>G	ENSP00000507852.1:p.Tyr522Cys
ENST00000683395.1:c.1506A>G
ENST00000684087.1:c.1529A>G	ENSP00000506978.1:p.Tyr510Cys
ENST00000506362.2:c.1280A>G	ENSP00000424103.2:p.Tyr427Cys
ENST00000673642.1:c.1188A>G	ENSP00000501242.1:p.Leu396=
ENST00000673991.1:c.1565A>G	ENSP00000501033.1:p.Tyr522Cys
ENST00000226760.5:c.1529A>G MANE Select	ENSP00000226760.1:p.Tyr510Cys
ENST00000503569.5:c.1529A>G	ENSP00000423337.1:p.Tyr510Cys
ENST00000507765.1:n.1714A>G
NM_001145853.1:c.1529A>G	NP_001139325.1:p.Tyr510Cys
NM_006005.3:c.1529A>G MANE Select	NP_005996.2:p.Tyr510Cys
XM_017008586.1:c.1538A>G	XP_016864075.1:p.Tyr513Cys