Canonical Allele Identifier: CA356172218

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1428467
• ClinVar RCV Id: RCV001964882
• dbSNP Id: rs750861249
• MyVariant Identifiers: chr4:g.6293653C>G (hg19) ; chr4:g.6291926C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291926C>G , CM000666.2:g.6291926C>G	GRCh38
NC_000004.11:g.6293653C>G , CM000666.1:g.6293653C>G	GRCh37
NC_000004.10:g.6344554C>G	NCBI36
NG_011700.1:g.27077C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.641C>G	ENSP00000507852.1:p.Ala214Gly
ENST00000683395.1:c.618C>G
ENST00000684087.1:c.641C>G	ENSP00000506978.1:p.Ala214Gly
ENST00000506362.2:c.392C>G	ENSP00000424103.2:p.Ala131Gly
ENST00000673642.1:c.440C>G	ENSP00000501242.1:p.Ala147Gly
ENST00000673991.1:c.641C>G	ENSP00000501033.1:p.Ala214Gly
ENST00000226760.5:c.641C>G MANE Select	ENSP00000226760.1:p.Ala214Gly
ENST00000503569.5:c.641C>G	ENSP00000423337.1:p.Ala214Gly
ENST00000506362.1:c.238C>G
ENST00000507765.1:n.826C>G
NM_001145853.1:c.641C>G	NP_001139325.1:p.Ala214Gly
NM_006005.3:c.641C>G MANE Select	NP_005996.2:p.Ala214Gly
XM_017008586.1:c.650C>G	XP_016864075.1:p.Ala217Gly