Canonical Allele Identifier: CA10647402

Gene: CYP11A1

Linked Data

• ClinVar Variation Id: 317128
• ClinVar RCV Id: RCV000318244
• dbSNP Id: rs886051480
• gnomAD v4: 15-74345080-C-G
• MyVariant Identifiers: chr15:g.74637421C>G (hg19) ; chr15:g.74345080C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74345080C>G , CM000677.2:g.74345080C>G	GRCh38
NC_000015.9:g.74637421C>G , CM000677.1:g.74637421C>G	GRCh37
NC_000015.8:g.72424474C>G	NCBI36
NG_007973.1:g.27662G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.589G>C MANE Select	ENSP00000268053.6:p.Asp197His
ENST00000268053.10:c.589G>C	ENSP00000268053.6:p.Asp197His
ENST00000358632.8:c.115G>C	ENSP00000351455.4:p.Asp39His
ENST00000435365.5:c.589G>C	ENSP00000391081.1:p.Asp197His
ENST00000450547.1:c.115G>C	ENSP00000402064.1:p.Asp39His
ENST00000566674.5:c.115G>C	ENSP00000456941.1:p.Asp39His
NM_000781.2:c.589G>C	NP_000772.2:p.Asp197His
NM_001099773.1:c.115G>C	NP_001093243.1:p.Asp39His
NM_000781.3:c.589G>C MANE Select	NP_000772.2:p.Asp197His
NM_001099773.2:c.115G>C	NP_001093243.1:p.Asp39His