Canonical Allele Identifier: CA438211472

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2900522
• ClinVar RCV Id: RCV003737180
• dbSNP Id: rs1477611840
• gnomAD v3: 4-6300720-A-C
• gnomAD v4: 4-6300720-A-C
• MyVariant Identifiers: chr4:g.6302447A>C (hg19) ; chr4:g.6300720A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300720A>C , CM000666.2:g.6300720A>C	GRCh38
NC_000004.11:g.6302447A>C , CM000666.1:g.6302447A>C	GRCh37
NC_000004.10:g.6353348A>C	NCBI36
NG_011700.1:g.35871A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.961A>C	ENSP00000507852.1:p.Arg321=
ENST00000683395.1:c.902A>C
ENST00000684087.1:c.925A>C	ENSP00000506978.1:p.Arg309=
ENST00000506362.2:c.676A>C	ENSP00000424103.2:p.Arg226=
ENST00000673642.1:c.661-77A>C	ENSP00000501242.1:n.661-77A>C
ENST00000673991.1:c.961A>C	ENSP00000501033.1:p.Arg321=
ENST00000226760.5:c.925A>C MANE Select	ENSP00000226760.1:p.Arg309=
ENST00000503569.5:c.925A>C	ENSP00000423337.1:p.Arg309=
ENST00000506362.1:c.558A>C
ENST00000507765.1:n.1110A>C
ENST00000513395.1:n.483A>C
NM_001145853.1:c.925A>C	NP_001139325.1:p.Arg309=
NM_006005.3:c.925A>C MANE Select	NP_005996.2:p.Arg309=
XM_017008586.1:c.934A>C	XP_016864075.1:p.Arg312=