Canonical Allele Identifier: CA438367952

Gene: WFS1

Linked Data

• ClinVar Variation Id: 506475
• ClinVar RCV Id: RCV000599664 ; RCV002509468
• dbSNP Id: rs1553878342
• MyVariant Identifiers: chr4:g.6302611G>A (hg19) ; chr4:g.6300884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300884G>A , CM000666.2:g.6300884G>A	GRCh38
NC_000004.11:g.6302611G>A , CM000666.1:g.6302611G>A	GRCh37
NC_000004.10:g.6353512G>A	NCBI36
NG_011700.1:g.36035G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1125G>A	ENSP00000507852.1:p.Lys375=
ENST00000683395.1:c.1066G>A
ENST00000684087.1:c.1089G>A	ENSP00000506978.1:p.Lys363=
ENST00000506362.2:c.840G>A	ENSP00000424103.2:p.Lys280=
ENST00000673642.1:c.748G>A	ENSP00000501242.1:p.Gly250Ser
ENST00000673991.1:c.1125G>A	ENSP00000501033.1:p.Lys375=
ENST00000226760.5:c.1089G>A MANE Select	ENSP00000226760.1:p.Lys363=
ENST00000503569.5:c.1089G>A	ENSP00000423337.1:p.Lys363=
ENST00000506362.1:c.722G>A
ENST00000507765.1:n.1274G>A
NM_001145853.1:c.1089G>A	NP_001139325.1:p.Lys363=
NM_006005.3:c.1089G>A MANE Select	NP_005996.2:p.Lys363=
XM_017008586.1:c.1098G>A	XP_016864075.1:p.Lys366=