Canonical Allele Identifier: CA232844

Gene: WFS1

Linked Data

• ClinVar Variation Id: 143132
• ClinVar RCV Id: RCV000132656 ; RCV000155350 ; RCV000264975 ; RCV000324875 ; RCV000490497
• dbSNP Id: rs147834269
• ExAC: 4:6303731 G / A
• gnomAD v2: 4-6303731-G-A
• gnomAD v3: 4-6302004-G-A
• gnomAD v4: 4-6302004-G-A
• MyVariant Identifiers: chr4:g.6303731G>A (hg19) ; chr4:g.6302004G>A (hg38)
• PubMed: PMID:10760554 ; PMID:11161832 ; PMID:11317350 ; PMID:22938506

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302004G>A , CM000666.2:g.6302004G>A	GRCh38
NC_000004.11:g.6303731G>A , CM000666.1:g.6303731G>A	GRCh37
NC_000004.10:g.6354632G>A	NCBI36
NG_011700.1:g.37155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2245G>A	ENSP00000507852.1:p.Glu749Lys
ENST00000683395.1:c.2186G>A
ENST00000684087.1:c.2209G>A	ENSP00000506978.1:p.Glu737Lys
ENST00000506362.2:c.1960G>A	ENSP00000424103.2:p.Glu654Lys
ENST00000673642.1:c.1868G>A	ENSP00000501242.1:n.1868G>A
ENST00000673991.1:c.2245G>A	ENSP00000501033.1:p.Glu749Lys
ENST00000226760.5:c.2209G>A MANE Select	ENSP00000226760.1:p.Glu737Lys
ENST00000503569.5:c.2209G>A	ENSP00000423337.1:p.Glu737Lys
ENST00000507765.1:n.2394G>A
NM_001145853.1:c.2209G>A	NP_001139325.1:p.Glu737Lys
NM_006005.3:c.2209G>A MANE Select	NP_005996.2:p.Glu737Lys
XM_017008586.1:c.2218G>A	XP_016864075.1:p.Glu740Lys