Canonical Allele Identifier: CA363507693

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 12168
• ClinVar RCV Id: RCV000012950
• dbSNP Id: rs1474566961
• MyVariant Identifiers: chr6:g.32007983G>C (hg19) ; chr6:g.32040206G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040206G>C , CM000668.2:g.32040206G>C	GRCh38
NC_000006.11:g.32007983G>C , CM000668.1:g.32007983G>C	GRCh37
NC_000006.10:g.32115962G>C	NCBI36
NG_007941.2:g.6899G>C
NG_008337.2:g.74169C>G
NG_007941.3:g.6902G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.939+1G>C MANE Select	ENSP00000496625.1:n.939+1G>C
ENST00000418967.6:c.939+1G>C	ENSP00000408860.2:n.939+1G>C
ENST00000435122.3:c.849+1G>C	ENSP00000415043.2:n.849+1G>C
ENST00000479074.5:n.997+1G>C
ENST00000479730.5:n.1055+1G>C
ENST00000483041.5:n.1108+1G>C
ENST00000486063.5:n.919-200G>C
NM_000500.7:c.939+1G>C	NP_000491.4:n.939+1G>C
NM_001128590.3:c.849+1G>C	NP_001122062.3:n.849+1G>C
XM_011514314.1:c.534+1G>C	XP_011512616.1:n.534+1G>C
NM_000500.9:c.939+1G>C MANE Select	NP_000491.4:n.939+1G>C
NM_001368143.1:c.534+1G>C	NP_001355072.1:n.534+1G>C
NM_001368144.1:c.534+1G>C	NP_001355073.1:n.534+1G>C
NM_001128590.4:c.849+1G>C	NP_001122062.3:n.849+1G>C
NM_001368143.2:c.534+1G>C	NP_001355072.1:n.534+1G>C
NM_001368144.2:c.534+1G>C	NP_001355073.1:n.534+1G>C