Canonical Allele Identifier: CA363511178

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 800595
• ClinVar RCV Id: RCV000984573
• dbSNP Id: rs376421504
• gnomAD v4: 6-32040575-G-C
• MyVariant Identifiers: chr6:g.32008352G>C (hg19) ; chr6:g.32040575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040575G>C , CM000668.2:g.32040575G>C	GRCh38
NC_000006.11:g.32008352G>C , CM000668.1:g.32008352G>C	GRCh37
NC_000006.10:g.32116331G>C	NCBI36
NG_007941.2:g.7268G>C
NG_008337.2:g.73800C>G
NG_007941.3:g.7271G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1109G>C MANE Select	ENSP00000496625.1:p.Arg370Pro
ENST00000418967.6:c.1109G>C	ENSP00000408860.2:p.Arg370Pro
ENST00000435122.3:c.1019G>C	ENSP00000415043.2:p.Arg340Pro
ENST00000479074.5:n.1167G>C
ENST00000479730.5:n.1225G>C
ENST00000483041.5:n.1278G>C
ENST00000486063.5:n.1088G>C
NM_000500.7:c.1109G>C	NP_000491.4:p.Arg370Pro
NM_001128590.3:c.1019G>C	NP_001122062.3:p.Arg340Pro
XM_011514314.1:c.704G>C	XP_011512616.1:p.Arg235Pro
NM_000500.9:c.1109G>C MANE Select	NP_000491.4:p.Arg370Pro
NM_001368143.1:c.704G>C	NP_001355072.1:p.Arg235Pro
NM_001368144.1:c.704G>C	NP_001355073.1:p.Arg235Pro
NM_001128590.4:c.1019G>C	NP_001122062.3:p.Arg340Pro
NM_001368143.2:c.704G>C	NP_001355072.1:p.Arg235Pro
NM_001368144.2:c.704G>C	NP_001355073.1:p.Arg235Pro