Canonical Allele Identifier: CA2839282
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1370377
dbSNP Id: rs749886570
gnomAD v2: 4-6302765-G-C
gnomAD v3: 4-6301038-G-C
gnomAD v4: 4-6301038-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301038G>C , CM000666.2:g.6301038G>C GRCh38
NC_000004.11:g.6302765G>C , CM000666.1:g.6302765G>C GRCh37
NC_000004.10:g.6353666G>C NCBI36
NG_011700.1:g.36189G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1279G>C ENSP00000507852.1:p.Val427Leu
ENST00000683395.1:c.1220G>C
ENST00000684087.1:c.1243G>C ENSP00000506978.1:p.Val415Leu
ENST00000506362.2:c.994G>C ENSP00000424103.2:p.Val332Leu
ENST00000673642.1:c.902G>C ENSP00000501242.1:p.Arg301Pro
ENST00000673991.1:c.1279G>C ENSP00000501033.1:p.Val427Leu
ENST00000226760.5:c.1243G>C MANE Select ENSP00000226760.1:p.Val415Leu
ENST00000503569.5:c.1243G>C ENSP00000423337.1:p.Val415Leu
ENST00000507765.1:n.1428G>C
NM_001145853.1:c.1243G>C NP_001139325.1:p.Val415Leu
NM_006005.3:c.1243G>C MANE Select NP_005996.2:p.Val415Leu
XM_017008586.1:c.1252G>C XP_016864075.1:p.Val418Leu