Canonical Allele Identifier: CA923726145

Gene: CYP11A1

Linked Data

• ClinVar Variation Id: 1804908
• ClinVar RCV Id: RCV002471326

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74347896T>A , CM000677.2:g.74347896T>A	GRCh38
NC_000015.9:g.74640237T>A , CM000677.1:g.74640237T>A	GRCh37
NC_000015.8:g.72427290T>A	NCBI36
NG_007973.1:g.24846A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.425+4A>T MANE Select	ENSP00000268053.6:n.425+4A>T
ENST00000268053.10:c.425+4A>T	ENSP00000268053.6:n.425+4A>T
ENST00000358632.8:c.-50+4A>T	ENSP00000351455.4:n.-50+4A>T
ENST00000416978.1:c.425+4A>T	ENSP00000388018.1:n.425+4A>T
ENST00000435365.5:c.425+4A>T	ENSP00000391081.1:n.425+4A>T
ENST00000450547.1:c.-50+4A>T	ENSP00000402064.1:n.-50+4A>T
ENST00000466978.1:n.819+4A>T
ENST00000566674.5:c.-50+4A>T	ENSP00000456941.1:n.-50+4A>T
ENST00000569662.1:c.-49-2653A>T	ENSP00000456598.1:n.-49-2653A>T
NM_000781.2:c.425+4A>T	NP_000772.2:n.425+4A>T
NM_001099773.1:c.-50+4A>T	NP_001093243.1:n.-50+4A>T
NM_000781.3:c.425+4A>T MANE Select	NP_000772.2:n.425+4A>T
NM_001099773.2:c.-50+4A>T	NP_001093243.1:n.-50+4A>T