Canonical Allele Identifier: CA363511965
Gene: CYP21A2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32040928G>A
GRCh37 chr6:g.32008705G>A
Revel Score:
ENST00000418967 0.250
ENST00000435122 0.250
gnomAD v2:
6:32008705 G / A
gnomAD v3:
6:32040928 G / A
gnomAD v4:
chr6-32040928-G-A
Joint Max Group AF 0.00000698 (NFE)
Genomes Max Group AF 0.0000118 (NFE)
Exomes Max Group AF 0.000012 (AFR)
ClinVar RCV:
RCV004997895
ClinVar Variation:
3572103
dbSNP:
1309937412
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040928G>A , CM000668.2:g.32040928G>A GRCh38
NC_000006.11:g.32008705G>A , CM000668.1:g.32008705G>A GRCh37
NC_000006.10:g.32116684G>A NCBI36
NG_007941.2:g.7621G>A
NG_008337.2:g.73447C>T
NG_007941.3:g.7624G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1282G>A MANE Select ENSP00000496625.1:p.Val428Met
ENST00000418967.6:c.1282G>A ENSP00000408860.2:p.Val428Met
ENST00000435122.3:c.1192G>A ENSP00000415043.2:p.Val398Met
ENST00000479074.5:n.1423G>A
ENST00000479730.5:n.1398G>A
ENST00000483041.5:n.1451G>A
ENST00000486063.5:n.1261G>A
NM_000500.7:c.1282G>A NP_000491.4:p.Val428Met
NM_001128590.3:c.1192G>A NP_001122062.3:p.Val398Met
XM_011514314.1:c.877G>A XP_011512616.1:p.Val293Met
NM_000500.9:c.1282G>A MANE Select NP_000491.4:p.Val428Met
NM_001368143.1:c.877G>A NP_001355072.1:p.Val293Met
NM_001368144.1:c.877G>A NP_001355073.1:p.Val293Met
NM_001128590.4:c.1192G>A NP_001122062.3:p.Val398Met
NM_001368143.2:c.877G>A NP_001355072.1:p.Val293Met
NM_001368144.2:c.877G>A NP_001355073.1:p.Val293Met
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