Canonical Allele Identifier: CA491193982

Gene: CYP11A1

Linked Data

• ClinVar Variation Id: 2990213
• ClinVar RCV Id: RCV003844908
• gnomAD v4: 15-74339589-T-G
• MyVariant Identifiers: chr15:g.74631930T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339589T>G , CM000677.2:g.74339589T>G	GRCh38
NC_000015.9:g.74631930T>G , CM000677.1:g.74631930T>G	GRCh37
NC_000015.8:g.72418983T>G	NCBI36
NG_007973.1:g.33153A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000268053.11:c.1155A>C MANE Select	ENSP00000268053.6:p.Leu385=
ENST00000268053.10:c.1155A>C	ENSP00000268053.6:p.Leu385=
ENST00000358632.8:c.681A>C	ENSP00000351455.4:p.Leu227=
ENST00000435365.5:c.1155A>C	ENSP00000391081.1:p.Leu385=
ENST00000566674.5:c.681A>C	ENSP00000456941.1:p.Leu227=
NM_000781.2:c.1155A>C	NP_000772.2:p.Leu385=
NM_001099773.1:c.681A>C	NP_001093243.1:p.Leu227=
NM_000781.3:c.1155A>C MANE Select	NP_000772.2:p.Leu385=
NM_001099773.2:c.681A>C	NP_001093243.1:p.Leu227=