Canonical Allele Identifier: CA3732627

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 1675315
• ClinVar RCV Id: RCV002211044 ; RCV003089112
• dbSNP Id: rs574370139
• ExAC: 6:32008313 G / A
• gnomAD v2: 6-32008313-G-A
• gnomAD v3: 6-32040536-G-A
• gnomAD v4: 6-32040536-G-A
• MyVariant Identifiers: chr6:g.32008313G>A (hg19) ; chr6:g.32040536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040536G>A , CM000668.2:g.32040536G>A	GRCh38
NC_000006.11:g.32008313G>A , CM000668.1:g.32008313G>A	GRCh37
NC_000006.10:g.32116292G>A	NCBI36
NG_007941.2:g.7229G>A
NG_008337.2:g.73839C>T
NG_007941.3:g.7232G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1070G>A MANE Select	ENSP00000496625.1:p.Arg357Gln
ENST00000418967.6:c.1070G>A	ENSP00000408860.2:p.Arg357Gln
ENST00000435122.3:c.980G>A	ENSP00000415043.2:p.Arg327Gln
ENST00000479074.5:n.1128G>A
ENST00000479730.5:n.1186G>A
ENST00000483041.5:n.1239G>A
ENST00000486063.5:n.1049G>A
NM_000500.7:c.1070G>A	NP_000491.4:p.Arg357Gln
NM_001128590.3:c.980G>A	NP_001122062.3:p.Arg327Gln
XM_011514314.1:c.665G>A	XP_011512616.1:p.Arg222Gln
NM_000500.9:c.1070G>A MANE Select	NP_000491.4:p.Arg357Gln
NM_001368143.1:c.665G>A	NP_001355072.1:p.Arg222Gln
NM_001368144.1:c.665G>A	NP_001355073.1:p.Arg222Gln
NM_001128590.4:c.980G>A	NP_001122062.3:p.Arg327Gln
NM_001368143.2:c.665G>A	NP_001355072.1:p.Arg222Gln
NM_001368144.2:c.665G>A	NP_001355073.1:p.Arg222Gln