Canonical Allele Identifier: CA915944124

Gene: WFS1

Linked Data

• ClinVar Variation Id: 682351
• ClinVar RCV Id: RCV000842422 ; RCV002509104
• dbSNP Id: rs1578597647
• gnomAD v4: 4-6291912-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291912T>C , CM000666.2:g.6291912T>C	GRCh38
NC_000004.11:g.6293639T>C , CM000666.1:g.6293639T>C	GRCh37
NC_000004.10:g.6344540T>C	NCBI36
NG_011700.1:g.27063T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.632-5T>C	ENSP00000507852.1:n.632-5T>C
ENST00000683395.1:c.609-5T>C
ENST00000684087.1:c.632-5T>C	ENSP00000506978.1:n.632-5T>C
ENST00000506362.2:c.383-5T>C	ENSP00000424103.2:n.383-5T>C
ENST00000673642.1:c.431-5T>C	ENSP00000501242.1:n.431-5T>C
ENST00000673991.1:c.632-5T>C	ENSP00000501033.1:n.632-5T>C
ENST00000226760.5:c.632-5T>C MANE Select	ENSP00000226760.1:n.632-5T>C
ENST00000503569.5:c.632-5T>C	ENSP00000423337.1:n.632-5T>C
ENST00000506362.1:c.229-5T>C
ENST00000507765.1:n.817-5T>C
NM_001145853.1:c.632-5T>C	NP_001139325.1:n.632-5T>C
NM_006005.3:c.632-5T>C MANE Select	NP_005996.2:n.632-5T>C
XM_017008586.1:c.641-5T>C	XP_016864075.1:n.641-5T>C