Canonical Allele Identifier: CA3732464

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 800626
• ClinVar RCV Id: RCV000984604
• dbSNP Id: rs777741541
• ExAC: 6:32007454 G / A
• gnomAD v2: 6-32007454-G-A
• gnomAD v3: 6-32039677-G-A
• gnomAD v4: 6-32039677-G-A
• MyVariant Identifiers: chr6:g.32007454G>A (hg19) ; chr6:g.32039677G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039677G>A , CM000668.2:g.32039677G>A	GRCh38
NC_000006.11:g.32007454G>A , CM000668.1:g.32007454G>A	GRCh37
NC_000006.10:g.32115433G>A	NCBI36
NG_007941.2:g.6370G>A
NG_008337.2:g.74698C>T
NG_007941.3:g.6373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.651+30G>A MANE Select	ENSP00000496625.1:n.651+30G>A
ENST00000418967.6:c.651+30G>A	ENSP00000408860.2:n.651+30G>A
ENST00000435122.3:c.561+30G>A	ENSP00000415043.2:n.561+30G>A
ENST00000462278.1:n.269G>A
ENST00000464325.5:n.572+30G>A
ENST00000466779.5:c.*343+30G>A	ENSP00000417321.1:n.*343+30G>A
ENST00000466879.5:n.702+30G>A
ENST00000479074.5:n.709+30G>A
ENST00000479730.5:n.767+30G>A
ENST00000483041.5:n.820+30G>A
ENST00000486063.5:n.831+30G>A
NM_000500.7:c.651+30G>A	NP_000491.4:n.651+30G>A
NM_001128590.3:c.561+30G>A	NP_001122062.3:n.561+30G>A
XM_011514314.1:c.246+30G>A	XP_011512616.1:n.246+30G>A
NM_000500.9:c.651+30G>A MANE Select	NP_000491.4:n.651+30G>A
NM_001368143.1:c.246+30G>A	NP_001355072.1:n.246+30G>A
NM_001368144.1:c.246+30G>A	NP_001355073.1:n.246+30G>A
NM_001128590.4:c.561+30G>A	NP_001122062.3:n.561+30G>A
NM_001368143.2:c.246+30G>A	NP_001355072.1:n.246+30G>A
NM_001368144.2:c.246+30G>A	NP_001355073.1:n.246+30G>A