Canonical Allele Identifier: CA136895689

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 3046177
• ClinVar RCV Id: RCV003951808
• dbSNP Id: rs924740532
• gnomAD v2: 6-32008853-T-C
• gnomAD v3: 6-32041076-T-C
• gnomAD v4: 6-32041076-T-C
• MyVariant Identifiers: chr6:g.32008853T>C (hg19) ; chr6:g.32041076T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041076T>C , CM000668.2:g.32041076T>C	GRCh38
NC_000006.11:g.32008853T>C , CM000668.1:g.32008853T>C	GRCh37
NC_000006.10:g.32116832T>C	NCBI36
NG_007941.2:g.7769T>C
NG_008337.2:g.73299A>G
NG_007941.3:g.7772T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1430T>C MANE Select	ENSP00000496625.1:p.Phe477Ser
ENST00000418967.6:c.1430T>C	ENSP00000408860.2:p.Phe477Ser
ENST00000435122.3:c.1340T>C	ENSP00000415043.2:p.Phe447Ser
ENST00000479074.5:n.1571T>C
ENST00000479730.5:n.1546T>C
ENST00000483041.5:n.1599T>C
ENST00000486063.5:n.1409T>C
NM_000500.7:c.1430T>C	NP_000491.4:p.Phe477Ser
NM_001128590.3:c.1340T>C	NP_001122062.3:p.Phe447Ser
XM_011514314.1:c.1025T>C	XP_011512616.1:p.Phe342Ser
NM_000500.9:c.1430T>C MANE Select	NP_000491.4:p.Phe477Ser
NM_001368143.1:c.1025T>C	NP_001355072.1:p.Phe342Ser
NM_001368144.1:c.1025T>C	NP_001355073.1:p.Phe342Ser
NM_001128590.4:c.1340T>C	NP_001122062.3:p.Phe447Ser
NM_001368143.2:c.1025T>C	NP_001355072.1:p.Phe342Ser
NM_001368144.2:c.1025T>C	NP_001355073.1:p.Phe342Ser