Canonical Allele Identifier: CA3732569
Gene: CYP21A2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32040179G>A
GRCh37 chr6:g.32007956G>A
Revel Score:
ENST00000418967 0.376
ENST00000435122 0.376
gnomAD v2:
6:32007956 G / A
gnomAD v3:
6:32040179 G / A
gnomAD v4:
chr6-32040179-G-A
Joint Max Group AF 0.00012398 (NFE)
Genomes Max Group AF 0.00050474 (EAS)
Exomes Max Group AF 0.00012536 (NFE)
ClinVar RCV:
RCV002211046
RCV002281650
ClinVar Variation:
1675317
dbSNP:
151344505
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040179G>A , CM000668.2:g.32040179G>A GRCh38
NC_000006.11:g.32007956G>A , CM000668.1:g.32007956G>A GRCh37
NC_000006.10:g.32115935G>A NCBI36
NG_007941.2:g.6872G>A
NG_008337.2:g.74196C>T
NG_007941.3:g.6875G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.913G>A MANE Select ENSP00000496625.1:p.Val305Met
ENST00000418967.6:c.913G>A ENSP00000408860.2:p.Val305Met
ENST00000435122.3:c.823G>A ENSP00000415043.2:p.Val275Met
ENST00000479074.5:n.971G>A
ENST00000479730.5:n.1029G>A
ENST00000483041.5:n.1082G>A
ENST00000486063.5:n.919-227G>A
NM_000500.7:c.913G>A NP_000491.4:p.Val305Met
NM_001128590.3:c.823G>A NP_001122062.3:p.Val275Met
XM_011514314.1:c.508G>A XP_011512616.1:p.Val170Met
NM_000500.9:c.913G>A MANE Select NP_000491.4:p.Val305Met
NM_001368143.1:c.508G>A NP_001355072.1:p.Val170Met
NM_001368144.1:c.508G>A NP_001355073.1:p.Val170Met
NM_001128590.4:c.823G>A NP_001122062.3:p.Val275Met
NM_001368143.2:c.508G>A NP_001355072.1:p.Val170Met
NM_001368144.2:c.508G>A NP_001355073.1:p.Val170Met
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