Canonical Allele Identifier: CA180501

Gene: WFS1

Linked Data

• ClinVar Variation Id: 167850
• ClinVar RCV Id: RCV000154149 ; RCV000355811 ; RCV000312681 ; RCV000870981 ; RCV001174388 ; RCV002464008
• dbSNP Id: rs146114074
• ExAC: 4:6302439 T / C
• gnomAD v2: 4-6302439-T-C
• gnomAD v3: 4-6300712-T-C
• gnomAD v4: 4-6300712-T-C
• MyVariant Identifiers: chr4:g.6302439T>C (hg19) ; chr4:g.6300712T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300712T>C , CM000666.2:g.6300712T>C	GRCh38
NC_000004.11:g.6302439T>C , CM000666.1:g.6302439T>C	GRCh37
NC_000004.10:g.6353340T>C	NCBI36
NG_011700.1:g.35863T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.953T>C	ENSP00000507852.1:p.Met318Thr
ENST00000683395.1:c.894T>C
ENST00000684087.1:c.917T>C	ENSP00000506978.1:p.Met306Thr
ENST00000506362.2:c.668T>C	ENSP00000424103.2:p.Met223Thr
ENST00000673642.1:c.661-85T>C	ENSP00000501242.1:n.661-85T>C
ENST00000673991.1:c.953T>C	ENSP00000501033.1:p.Met318Thr
ENST00000226760.5:c.917T>C MANE Select	ENSP00000226760.1:p.Met306Thr
ENST00000503569.5:c.917T>C	ENSP00000423337.1:p.Met306Thr
ENST00000506362.1:c.550T>C
ENST00000507765.1:n.1102T>C
ENST00000513395.1:n.475T>C
NM_001145853.1:c.917T>C	NP_001139325.1:p.Met306Thr
NM_006005.3:c.917T>C MANE Select	NP_005996.2:p.Met306Thr
XM_017008586.1:c.926T>C	XP_016864075.1:p.Met309Thr