Canonical Allele Identifier: CA491195509

Gene: CYP11A1

Linked Data

• ClinVar Variation Id: 3008655
• ClinVar RCV Id: RCV003861782
• dbSNP Id: rs2060639466
• gnomAD v3: 15-74347932-C-T
• gnomAD v4: 15-74347932-C-T
• MyVariant Identifiers: chr15:g.74640273C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74347932C>T , CM000677.2:g.74347932C>T	GRCh38
NC_000015.9:g.74640273C>T , CM000677.1:g.74640273C>T	GRCh37
NC_000015.8:g.72427326C>T	NCBI36
NG_007973.1:g.24810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.393G>A MANE Select	ENSP00000268053.6:p.Gln131=
ENST00000268053.10:c.393G>A	ENSP00000268053.6:p.Gln131=
ENST00000358632.8:c.-82G>A	ENSP00000351455.4:n.-82G>A
ENST00000416978.1:c.393G>A	ENSP00000388018.1:p.Gln131=
ENST00000435365.5:c.393G>A	ENSP00000391081.1:p.Gln131=
ENST00000450547.1:c.-82G>A	ENSP00000402064.1:n.-82G>A
ENST00000466978.1:n.787G>A
ENST00000566674.5:c.-82G>A	ENSP00000456941.1:n.-82G>A
ENST00000569662.1:c.-49-2689G>A	ENSP00000456598.1:n.-49-2689G>A
NM_000781.2:c.393G>A	NP_000772.2:p.Gln131=
NM_001099773.1:c.-82G>A	NP_001093243.1:n.-82G>A
NM_000781.3:c.393G>A MANE Select	NP_000772.2:p.Gln131=
NM_001099773.2:c.-82G>A	NP_001093243.1:n.-82G>A