Canonical Allele Identifier: CA3732374

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 1675316
• ClinVar RCV Id: RCV002211045
• dbSNP Id: rs371412889
• ExAC: 6:32006951 C / T
• gnomAD v2: 6-32006951-C-T
• gnomAD v3: 6-32039174-C-T
• gnomAD v4: 6-32039174-C-T
• MyVariant Identifiers: chr6:g.32006951C>T (hg19) ; chr6:g.32039174C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039174C>T , CM000668.2:g.32039174C>T	GRCh38
NC_000006.11:g.32006951C>T , CM000668.1:g.32006951C>T	GRCh37
NC_000006.10:g.32114930C>T	NCBI36
NG_007941.2:g.5867C>T
NG_008337.2:g.75201G>A
NG_007941.3:g.5870C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.373C>T MANE Select	ENSP00000496625.1:p.Arg125Cys
ENST00000418967.6:c.373C>T	ENSP00000408860.2:p.Arg125Cys
ENST00000435122.3:c.283C>T	ENSP00000415043.2:p.Arg95Cys
ENST00000464325.5:n.294C>T
ENST00000466779.5:c.*65C>T	ENSP00000417321.1:n.*65C>T
ENST00000466879.5:n.424C>T
ENST00000469053.5:c.*65C>T	ENSP00000418104.1:n.*65C>T
ENST00000471671.4:c.373C>T	ENSP00000418561.1:p.Arg125Cys
ENST00000478281.5:c.406C>T	ENSP00000419572.1:p.Arg136Cys
ENST00000479074.5:n.431C>T
ENST00000479730.5:n.528C>T
ENST00000483041.5:n.542C>T
ENST00000486063.5:n.553C>T
ENST00000488465.1:n.381C>T
NM_000500.7:c.373C>T	NP_000491.4:p.Arg125Cys
NM_001128590.3:c.283C>T	NP_001122062.3:p.Arg95Cys
XM_011514314.1:c.-33C>T	XP_011512616.1:n.-33C>T
NM_000500.9:c.373C>T MANE Select	NP_000491.4:p.Arg125Cys
NM_001368143.1:c.-33C>T	NP_001355072.1:n.-33C>T
NM_001368144.1:c.-33C>T	NP_001355073.1:n.-33C>T
NM_001128590.4:c.283C>T	NP_001122062.3:p.Arg95Cys
NM_001368143.2:c.-33C>T	NP_001355072.1:n.-33C>T
NM_001368144.2:c.-33C>T	NP_001355073.1:n.-33C>T