Canonical Allele Identifier: CA3732390

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 800615
• ClinVar RCV Id: RCV000984593
• dbSNP Id: rs569670804
• ExAC: 6:32007064 G / A
• gnomAD v2: 6-32007064-G-A
• gnomAD v3: 6-32039287-G-A
• gnomAD v4: 6-32039287-G-A
• MyVariant Identifiers: chr6:g.32007064G>A (hg19) ; chr6:g.32039287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039287G>A , CM000668.2:g.32039287G>A	GRCh38
NC_000006.11:g.32007064G>A , CM000668.1:g.32007064G>A	GRCh37
NC_000006.10:g.32115043G>A	NCBI36
NG_007941.2:g.5980G>A
NG_008337.2:g.75088C>T
NG_007941.3:g.5983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.447+39G>A MANE Select	ENSP00000496625.1:n.447+39G>A
ENST00000418967.6:c.447+39G>A	ENSP00000408860.2:n.447+39G>A
ENST00000435122.3:c.357+39G>A	ENSP00000415043.2:n.357+39G>A
ENST00000462278.1:n.35+39G>A
ENST00000464325.5:n.368+39G>A
ENST00000466779.5:c.*139+39G>A	ENSP00000417321.1:n.*139+39G>A
ENST00000466879.5:n.498+39G>A
ENST00000469053.5:c.*139+39G>A	ENSP00000418104.1:n.*139+39G>A
ENST00000471671.4:c.447+39G>A	ENSP00000418561.1:n.447+39G>A
ENST00000478281.5:c.480+39G>A	ENSP00000419572.1:n.480+39G>A
ENST00000479074.5:n.505+39G>A
ENST00000479730.5:n.602+39G>A
ENST00000483041.5:n.616+39G>A
ENST00000486063.5:n.627+39G>A
ENST00000488465.1:n.455+39G>A
NM_000500.7:c.447+39G>A	NP_000491.4:n.447+39G>A
NM_001128590.3:c.357+39G>A	NP_001122062.3:n.357+39G>A
XM_011514314.1:c.42+39G>A	XP_011512616.1:n.42+39G>A
NM_000500.9:c.447+39G>A MANE Select	NP_000491.4:n.447+39G>A
NM_001368143.1:c.42+39G>A	NP_001355072.1:n.42+39G>A
NM_001368144.1:c.42+39G>A	NP_001355073.1:n.42+39G>A
NM_001128590.4:c.357+39G>A	NP_001122062.3:n.357+39G>A
NM_001368143.2:c.42+39G>A	NP_001355072.1:n.42+39G>A
NM_001368144.2:c.42+39G>A	NP_001355073.1:n.42+39G>A