Canonical Allele Identifier: CA7656692

Gene: CYP11A1

Linked Data

• ClinVar Variation Id: 317134
• ClinVar RCV Id: RCV000345392
• dbSNP Id: rs150725205
• ExAC: 15:74659841 C / T
• gnomAD v2: 15-74659841-C-T
• gnomAD v3: 15-74367500-C-T
• gnomAD v4: 15-74367500-C-T
• MyVariant Identifiers: chr15:g.74659841C>T (hg19) ; chr15:g.74367500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74367500C>T , CM000677.2:g.74367500C>T	GRCh38
NC_000015.9:g.74659841C>T , CM000677.1:g.74659841C>T	GRCh37
NC_000015.8:g.72446894C>T	NCBI36
NG_007973.1:g.5241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.86G>A MANE Select	ENSP00000268053.6:p.Arg29His
ENST00000268053.10:c.86G>A	ENSP00000268053.6:p.Arg29His
ENST00000416978.1:c.86G>A	ENSP00000388018.1:p.Arg29His
ENST00000435365.5:c.86G>A	ENSP00000391081.1:p.Arg29His
ENST00000467407.1:n.147G>A
NM_000781.2:c.86G>A	NP_000772.2:p.Arg29His
NM_000781.3:c.86G>A MANE Select	NP_000772.2:p.Arg29His