Canonical Allele Identifier: CA323353
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6302142T>C
GRCh37 chr4:g.6303869T>C
Revel Score:
ENST00000503569 0.204
ENST00000226760 (MANE Select) 0.204
ENST00000540337 0.204
gnomAD v2:
4:6303869 T / C
gnomAD v3:
4:6302142 T / C
gnomAD v4:
chr4-6302142-T-C
Joint Max Group AF 0.00012017 (EAS)
Genomes Max Group AF 0.00005841 (NFE)
Exomes Max Group AF 0.00013578 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302142T>C , CM000666.2:g.6302142T>C GRCh38
NC_000004.11:g.6303869T>C , CM000666.1:g.6303869T>C GRCh37
NC_000004.10:g.6354770T>C NCBI36
NG_011700.1:g.37293T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2383T>C ENSP00000507852.1:p.Phe795Leu
ENST00000683395.1:c.2324T>C
ENST00000684087.1:c.2347T>C ENSP00000506978.1:p.Phe783Leu
ENST00000506362.2:c.2098T>C ENSP00000424103.2:p.Phe700Leu
ENST00000673642.1:c.2006T>C ENSP00000501242.1:n.2006T>C
ENST00000673991.1:c.2383T>C ENSP00000501033.1:p.Phe795Leu
ENST00000226760.5:c.2347T>C MANE Select ENSP00000226760.1:p.Phe783Leu
ENST00000503569.5:c.2347T>C ENSP00000423337.1:p.Phe783Leu
ENST00000507765.1:n.2532T>C
NM_001145853.1:c.2347T>C NP_001139325.1:p.Phe783Leu
NM_006005.3:c.2347T>C MANE Select NP_005996.2:p.Phe783Leu
XM_017008586.1:c.2356T>C XP_016864075.1:p.Phe786Leu
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