Canonical Allele Identifier: CA277064

Gene: WFS1

Linked Data

• ClinVar Variation Id: 212614
• ClinVar RCV Id: RCV000193050
• dbSNP Id: rs369107336
• MyVariant Identifiers: chr4:g.6303891C>A (hg19) ; chr4:g.6302164C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302164C>A , CM000666.2:g.6302164C>A	GRCh38
NC_000004.11:g.6303891C>A , CM000666.1:g.6303891C>A	GRCh37
NC_000004.10:g.6354792C>A	NCBI36
NG_011700.1:g.37315C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2405C>A	ENSP00000507852.1:p.Ser802Ter
ENST00000683395.1:c.2346C>A
ENST00000684087.1:c.2369C>A	ENSP00000506978.1:p.Ser790Ter
ENST00000506362.2:c.2120C>A	ENSP00000424103.2:p.Ser707Ter
ENST00000673991.1:c.2405C>A	ENSP00000501033.1:p.Ser802Ter
ENST00000226760.5:c.2369C>A MANE Select	ENSP00000226760.1:p.Ser790Ter
ENST00000503569.5:c.2369C>A	ENSP00000423337.1:p.Ser790Ter
ENST00000507765.1:n.2554C>A
NM_001145853.1:c.2369C>A	NP_001139325.1:p.Ser790Ter
NM_006005.3:c.2369C>A MANE Select	NP_005996.2:p.Ser790Ter
XM_017008586.1:c.2378C>A	XP_016864075.1:p.Ser793Ter