Canonical Allele Identifier: CA3732277

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 256286
• ClinVar RCV Id: RCV000244556 ; RCV001658178 ; RCV002519883
• dbSNP Id: rs6468
• ExAC: 6:32006317 C / T
• gnomAD v2: 6-32006317-C-T
• gnomAD v3: 6-32038540-C-T
• gnomAD v4: 6-32038540-C-T
• MyVariant Identifiers: chr6:g.32006317C>T (hg19) ; chr6:g.32038540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038540C>T , CM000668.2:g.32038540C>T	GRCh38
NC_000006.11:g.32006317C>T , CM000668.1:g.32006317C>T	GRCh37
NC_000006.10:g.32114296C>T	NCBI36
NG_007941.3:g.5236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.118C>T MANE Select	ENSP00000496625.1:p.Leu40=
ENST00000418967.6:c.118C>T	ENSP00000408860.2:p.Leu40=
ENST00000435122.3:c.118C>T	ENSP00000415043.2:p.Leu40=
ENST00000466779.5:c.118C>T	ENSP00000417321.1:p.Leu40=
ENST00000469053.5:c.118C>T	ENSP00000418104.1:p.Leu40=
ENST00000471671.4:c.118C>T	ENSP00000418561.1:p.Leu40=
ENST00000478281.5:c.118C>T	ENSP00000419572.1:p.Leu40=
ENST00000479074.5:n.176C>T
ENST00000479730.5:n.176C>T
ENST00000480027.1:n.171C>T
ENST00000483041.5:n.171C>T
ENST00000486063.5:n.201C>T
ENST00000488465.1:n.126C>T
NM_000500.7:c.118C>T	NP_000491.4:p.Leu40=
NM_001128590.3:c.118C>T	NP_001122062.3:p.Leu40=
XM_011514314.1:c.-307C>T	XP_011512616.1:n.-307C>T
NM_000500.9:c.118C>T MANE Select	NP_000491.4:p.Leu40=
NM_001368143.1:c.-307C>T	NP_001355072.1:n.-307C>T
NM_001368144.1:c.-217C>T	NP_001355073.1:n.-217C>T
NM_001128590.4:c.118C>T	NP_001122062.3:p.Leu40=
NM_001368143.2:c.-307C>T	NP_001355072.1:n.-307C>T
NM_001368144.2:c.-217C>T	NP_001355073.1:n.-217C>T