Canonical Allele Identifier: CA276183
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6302058T>C
GRCh37 chr4:g.6303785T>C
Revel Score:
ENST00000503569 0.885
ENST00000226760 (MANE Select) 0.885
ENST00000540337 0.885
gnomAD v3:
4:6302058 T / C
gnomAD v4:
chr4-6302058-T-C
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000191145
RCV001852540
ClinVar Variation:
209206
dbSNP:
797045075
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302058T>C , CM000666.2:g.6302058T>C GRCh38
NC_000004.11:g.6303785T>C , CM000666.1:g.6303785T>C GRCh37
NC_000004.10:g.6354686T>C NCBI36
NG_011700.1:g.37209T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2299T>C ENSP00000507852.1:p.Cys767Arg
ENST00000683395.1:c.2240T>C
ENST00000684087.1:c.2263T>C ENSP00000506978.1:p.Cys755Arg
ENST00000506362.2:c.2014T>C ENSP00000424103.2:p.Cys672Arg
ENST00000673642.1:c.1922T>C ENSP00000501242.1:n.1922T>C
ENST00000673991.1:c.2299T>C ENSP00000501033.1:p.Cys767Arg
ENST00000226760.5:c.2263T>C MANE Select ENSP00000226760.1:p.Cys755Arg
ENST00000503569.5:c.2263T>C ENSP00000423337.1:p.Cys755Arg
ENST00000507765.1:n.2448T>C
NM_001145853.1:c.2263T>C NP_001139325.1:p.Cys755Arg
NM_006005.3:c.2263T>C MANE Select NP_005996.2:p.Cys755Arg
XM_017008586.1:c.2272T>C XP_016864075.1:p.Cys758Arg
Search 100 bp 5'
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