Canonical Allele Identifier: CA915944194

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 800617
• ClinVar RCV Id: RCV000984595
• dbSNP Id: rs1582304092
• gnomAD v4: 6-32039353-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039353C>T , CM000668.2:g.32039353C>T	GRCh38
NC_000006.11:g.32007130C>T , CM000668.1:g.32007130C>T	GRCh37
NC_000006.10:g.32115109C>T	NCBI36
NG_007941.2:g.6046C>T
NG_008337.2:g.75022G>A
NG_007941.3:g.6049C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.448-3C>T MANE Select	ENSP00000496625.1:n.448-3C>T
ENST00000418967.6:c.448-3C>T	ENSP00000408860.2:n.448-3C>T
ENST00000435122.3:c.358-3C>T	ENSP00000415043.2:n.358-3C>T
ENST00000462278.1:n.36-3C>T
ENST00000464325.5:n.369-3C>T
ENST00000466779.5:c.*140-3C>T	ENSP00000417321.1:n.*140-3C>T
ENST00000466879.5:n.499-3C>T
ENST00000469053.5:c.*140-3C>T	ENSP00000418104.1:n.*140-3C>T
ENST00000471671.4:c.448-3C>T	ENSP00000418561.1:n.448-3C>T
ENST00000478281.5:c.481-3C>T	ENSP00000419572.1:n.481-3C>T
ENST00000479074.5:n.506-3C>T
ENST00000479730.5:n.603-3C>T
ENST00000483041.5:n.617-3C>T
ENST00000486063.5:n.628-3C>T
ENST00000488465.1:n.456-3C>T
NM_000500.7:c.448-3C>T	NP_000491.4:n.448-3C>T
NM_001128590.3:c.358-3C>T	NP_001122062.3:n.358-3C>T
XM_011514314.1:c.43-3C>T	XP_011512616.1:n.43-3C>T
NM_000500.9:c.448-3C>T MANE Select	NP_000491.4:n.448-3C>T
NM_001368143.1:c.43-3C>T	NP_001355072.1:n.43-3C>T
NM_001368144.1:c.43-3C>T	NP_001355073.1:n.43-3C>T
NM_001128590.4:c.358-3C>T	NP_001122062.3:n.358-3C>T
NM_001368143.2:c.43-3C>T	NP_001355072.1:n.43-3C>T
NM_001368144.2:c.43-3C>T	NP_001355073.1:n.43-3C>T