Canonical Allele Identifier: CA2575788276

Gene: CYP11A1

Linked Data

• ClinVar Variation Id: 2814772
• ClinVar RCV Id: RCV003683096
• gnomAD v4: 15-74339575-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339575T>C , CM000677.2:g.74339575T>C	GRCh38
NC_000015.9:g.74631916T>C , CM000677.1:g.74631916T>C	GRCh37
NC_000015.8:g.72418969T>C	NCBI36
NG_007973.1:g.33167A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000268053.11:c.1157+12A>G MANE Select	ENSP00000268053.6:n.1157+12A>G
ENST00000268053.10:c.1157+12A>G	ENSP00000268053.6:n.1157+12A>G
ENST00000358632.8:c.683+12A>G	ENSP00000351455.4:n.683+12A>G
ENST00000435365.5:c.1157+12A>G	ENSP00000391081.1:n.1157+12A>G
NM_000781.2:c.1157+12A>G	NP_000772.2:n.1157+12A>G
NM_001099773.1:c.683+12A>G	NP_001093243.1:n.683+12A>G
NM_000781.3:c.1157+12A>G MANE Select	NP_000772.2:n.1157+12A>G
NM_001099773.2:c.683+12A>G	NP_001093243.1:n.683+12A>G