Canonical Allele Identifier: CA3732711
Gene: CYP21A2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32040871C>T
GRCh37 chr6:g.32008648C>T
Revel Score:
ENST00000418967 0.787
ENST00000435122 0.787
gnomAD v2:
6:32008648 C / T
gnomAD v3:
6:32040871 C / T
gnomAD v4:
chr6-32040871-C-T
Joint Max Group AF 0.00002763 (AFR)
Genomes Max Group AF 0.00003248 (AFR)
Exomes Max Group AF 0.00001039 (SAS)
ClinVar RCV:
RCV000012961
RCV002472928
ClinVar Variation:
12179
dbSNP:
72552757
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040871C>T , CM000668.2:g.32040871C>T GRCh38
NC_000006.11:g.32008648C>T , CM000668.1:g.32008648C>T GRCh37
NC_000006.10:g.32116627C>T NCBI36
NG_007941.2:g.7564C>T
NG_008337.2:g.73504G>A
NG_007941.3:g.7567C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1225C>T MANE Select ENSP00000496625.1:p.Arg409Cys
ENST00000418967.6:c.1225C>T ENSP00000408860.2:p.Arg409Cys
ENST00000435122.3:c.1135C>T ENSP00000415043.2:p.Arg379Cys
ENST00000479074.5:n.1366C>T
ENST00000479730.5:n.1341C>T
ENST00000483041.5:n.1394C>T
ENST00000486063.5:n.1204C>T
NM_000500.7:c.1225C>T NP_000491.4:p.Arg409Cys
NM_001128590.3:c.1135C>T NP_001122062.3:p.Arg379Cys
XM_011514314.1:c.820C>T XP_011512616.1:p.Arg274Cys
NM_000500.9:c.1225C>T MANE Select NP_000491.4:p.Arg409Cys
NM_001368143.1:c.820C>T NP_001355072.1:p.Arg274Cys
NM_001368144.1:c.820C>T NP_001355073.1:p.Arg274Cys
NM_001128590.4:c.1135C>T NP_001122062.3:p.Arg379Cys
NM_001368143.2:c.820C>T NP_001355072.1:p.Arg274Cys
NM_001368144.2:c.820C>T NP_001355073.1:p.Arg274Cys
Search 100 bp 5'
Search 100 bp 3'