Canonical Allele Identifier: CA11805838

Gene: WFS1

Linked Data

• ClinVar Variation Id: 672590
• ClinVar RCV Id: RCV000831851 ; RCV002509099
• dbSNP Id: rs71539643
• gnomAD v2: 4-6293258-G-C
• gnomAD v3: 4-6291531-G-C
• gnomAD v4: 4-6291531-G-C
• MyVariant Identifiers: chr4:g.6293258G>C (hg19) ; chr4:g.6291531G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291531G>C , CM000666.2:g.6291531G>C	GRCh38
NC_000004.11:g.6293258G>C , CM000666.1:g.6293258G>C	GRCh37
NC_000004.10:g.6344159G>C	NCBI36
NG_011700.1:g.26682G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.631+164G>C	ENSP00000507852.1:n.631+164G>C
ENST00000683395.1:c.608+177G>C
ENST00000684087.1:c.631+164G>C	ENSP00000506978.1:n.631+164G>C
ENST00000684700.1:c.*90G>C	ENSP00000507806.1:n.*90G>C
ENST00000506362.2:c.382+164G>C	ENSP00000424103.2:n.382+164G>C
ENST00000673642.1:c.430+164G>C	ENSP00000501242.1:n.430+164G>C
ENST00000673991.1:c.631+164G>C	ENSP00000501033.1:n.631+164G>C
ENST00000226760.5:c.631+164G>C MANE Select	ENSP00000226760.1:n.631+164G>C
ENST00000503569.5:c.631+164G>C	ENSP00000423337.1:n.631+164G>C
ENST00000506362.1:c.228+164G>C
ENST00000507765.1:n.816+164G>C
NM_001145853.1:c.631+164G>C	NP_001139325.1:n.631+164G>C
NM_006005.3:c.631+164G>C MANE Select	NP_005996.2:n.631+164G>C
XM_017008586.1:c.640+164G>C	XP_016864075.1:n.640+164G>C