Canonical Allele Identifier: CA7656366

Gene: CYP11A1

Linked Data

• ClinVar Variation Id: 2985424
• ClinVar RCV Id: RCV003848551
• dbSNP Id: rs776126810
• ExAC: 15:74631966 C / A
• gnomAD v2: 15-74631966-C-A
• gnomAD v3: 15-74339625-C-A
• gnomAD v4: 15-74339625-C-A
• MyVariant Identifiers: chr15:g.74631966C>A (hg19) ; chr15:g.74339625C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339625C>A , CM000677.2:g.74339625C>A	GRCh38
NC_000015.9:g.74631966C>A , CM000677.1:g.74631966C>A	GRCh37
NC_000015.8:g.72419019C>A	NCBI36
NG_007973.1:g.33117G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1119G>T MANE Select	ENSP00000268053.6:p.Leu373=
ENST00000268053.10:c.1119G>T	ENSP00000268053.6:p.Leu373=
ENST00000358632.8:c.645G>T	ENSP00000351455.4:p.Leu215=
ENST00000435365.5:c.1119G>T	ENSP00000391081.1:p.Leu373=
ENST00000566674.5:c.645G>T	ENSP00000456941.1:p.Leu215=
NM_000781.2:c.1119G>T	NP_000772.2:p.Leu373=
NM_001099773.1:c.645G>T	NP_001093243.1:p.Leu215=
NM_000781.3:c.1119G>T MANE Select	NP_000772.2:p.Leu373=
NM_001099773.2:c.645G>T	NP_001093243.1:p.Leu215=