Canonical Allele Identifier: CA3732747

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 585746
• ClinVar RCV Id: RCV000711366
• dbSNP Id: rs150697472
• ExAC: 6:32008923 C / T
• gnomAD v2: 6-32008923-C-T
• gnomAD v3: 6-32041146-C-T
• gnomAD v4: 6-32041146-C-T
• MyVariant Identifiers: chr6:g.32008923C>T (hg19) ; chr6:g.32041146C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041146C>T , CM000668.2:g.32041146C>T	GRCh38
NC_000006.11:g.32008923C>T , CM000668.1:g.32008923C>T	GRCh37
NC_000006.10:g.32116902C>T	NCBI36
NG_007941.2:g.7839C>T
NG_008337.2:g.73229G>A
NG_007941.3:g.7842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.*12C>T MANE Select	ENSP00000496625.1:n.*12C>T
ENST00000418967.6:c.*12C>T	ENSP00000408860.2:n.*12C>T
ENST00000435122.3:c.*12C>T	ENSP00000415043.2:n.*12C>T
ENST00000479074.5:n.1641C>T
ENST00000479730.5:n.1616C>T
ENST00000483041.5:n.1669C>T
ENST00000486063.5:n.1479C>T
NM_000500.7:c.*12C>T	NP_000491.4:n.*12C>T
NM_001128590.3:c.*12C>T	NP_001122062.3:n.*12C>T
XM_011514314.1:c.*12C>T	XP_011512616.1:n.*12C>T
NM_000500.9:c.*12C>T MANE Select	NP_000491.4:n.*12C>T
NM_001368143.1:c.*12C>T	NP_001355072.1:n.*12C>T
NM_001368144.1:c.*12C>T	NP_001355073.1:n.*12C>T
NM_001128590.4:c.*12C>T	NP_001122062.3:n.*12C>T
NM_001368143.2:c.*12C>T	NP_001355072.1:n.*12C>T
NM_001368144.2:c.*12C>T	NP_001355073.1:n.*12C>T