Canonical Allele Identifier: CA2697549227

Gene: CYP11A1

Linked Data

• ClinVar Variation Id: 2695745
• ClinVar RCV Id: RCV003542260

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339757G>T , CM000677.2:g.74339757G>T	GRCh38
NC_000015.9:g.74632098G>T , CM000677.1:g.74632098G>T	GRCh37
NC_000015.8:g.72419151G>T	NCBI36
NG_007973.1:g.32985C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.991-4C>A MANE Select	ENSP00000268053.6:n.991-4C>A
ENST00000268053.10:c.991-4C>A	ENSP00000268053.6:n.991-4C>A
ENST00000358632.8:c.517-4C>A	ENSP00000351455.4:n.517-4C>A
ENST00000435365.5:c.991-4C>A	ENSP00000391081.1:n.991-4C>A
ENST00000566674.5:c.517-4C>A	ENSP00000456941.1:n.517-4C>A
NM_000781.2:c.991-4C>A	NP_000772.2:n.991-4C>A
NM_001099773.1:c.517-4C>A	NP_001093243.1:n.517-4C>A
NM_000781.3:c.991-4C>A MANE Select	NP_000772.2:n.991-4C>A
NM_001099773.2:c.517-4C>A	NP_001093243.1:n.517-4C>A