Canonical Allele Identifier: CA393147057

Gene: CYP11A1

Linked Data

• dbSNP Id: rs1473768112
• gnomAD v2: 15-74631983-C-T
• gnomAD v4: 15-74339642-C-T
• COSMIC: COSM1938457
• MyVariant Identifiers: chr15:g.74631983C>T (hg19) ; chr15:g.74339642C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339642C>T , CM000677.2:g.74339642C>T	GRCh38
NC_000015.9:g.74631983C>T , CM000677.1:g.74631983C>T	GRCh37
NC_000015.8:g.72419036C>T	NCBI36
NG_007973.1:g.33100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1102G>A MANE Select	ENSP00000268053.6:p.Ala368Thr
ENST00000268053.10:c.1102G>A	ENSP00000268053.6:p.Ala368Thr
ENST00000358632.8:c.628G>A	ENSP00000351455.4:p.Ala210Thr
ENST00000435365.5:c.1102G>A	ENSP00000391081.1:p.Ala368Thr
ENST00000566674.5:c.628G>A	ENSP00000456941.1:p.Ala210Thr
NM_000781.2:c.1102G>A	NP_000772.2:p.Ala368Thr
NM_001099773.1:c.628G>A	NP_001093243.1:p.Ala210Thr
NM_000781.3:c.1102G>A MANE Select	NP_000772.2:p.Ala368Thr
NM_001099773.2:c.628G>A	NP_001093243.1:p.Ala210Thr