Canonical Allele Identifier: CA321767
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6302248G>A
GRCh37 chr4:g.6303975G>A
Revel Score:
ENST00000503569 0.480
ENST00000226760 (MANE Select) 0.480
ENST00000540337 0.480
gnomAD v2:
4:6303975 G / A
gnomAD v3:
4:6302248 G / A
gnomAD v4:
chr4-6302248-G-A
Joint Max Group AF 0.00006839 (NFE)
Genomes Max Group AF 0.00007287 (SAS)
Exomes Max Group AF 0.00007083 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302248G>A , CM000666.2:g.6302248G>A GRCh38
NC_000004.11:g.6303975G>A , CM000666.1:g.6303975G>A GRCh37
NC_000004.10:g.6354876G>A NCBI36
NG_011700.1:g.37399G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2489G>A ENSP00000507852.1:p.Arg830His
ENST00000683395.1:c.2430G>A
ENST00000684087.1:c.2453G>A ENSP00000506978.1:p.Arg818His
ENST00000506362.2:c.2204G>A ENSP00000424103.2:p.Arg735His
ENST00000673991.1:c.2489G>A ENSP00000501033.1:p.Arg830His
ENST00000226760.5:c.2453G>A MANE Select ENSP00000226760.1:p.Arg818His
ENST00000503569.5:c.2453G>A ENSP00000423337.1:p.Arg818His
ENST00000507765.1:n.2638G>A
NM_001145853.1:c.2453G>A NP_001139325.1:p.Arg818His
NM_006005.3:c.2453G>A MANE Select NP_005996.2:p.Arg818His
XM_017008586.1:c.2462G>A XP_016864075.1:p.Arg821His
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