Canonical Allele Identifier: CA393146963

Gene: CYP11A1

Linked Data

• dbSNP Id: rs143743827
• gnomAD v4: 15-74339598-C-A
• COSMIC: COSM964817
• MyVariant Identifiers: chr15:g.74631939C>A (hg19) ; chr15:g.74339598C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339598C>A , CM000677.2:g.74339598C>A	GRCh38
NC_000015.9:g.74631939C>A , CM000677.1:g.74631939C>A	GRCh37
NC_000015.8:g.72418992C>A	NCBI36
NG_007973.1:g.33144G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1146G>T MANE Select	ENSP00000268053.6:p.Lys382Asn
ENST00000268053.10:c.1146G>T	ENSP00000268053.6:p.Lys382Asn
ENST00000358632.8:c.672G>T	ENSP00000351455.4:p.Lys224Asn
ENST00000435365.5:c.1146G>T	ENSP00000391081.1:p.Lys382Asn
ENST00000566674.5:c.672G>T	ENSP00000456941.1:p.Lys224Asn
NM_000781.2:c.1146G>T	NP_000772.2:p.Lys382Asn
NM_001099773.1:c.672G>T	NP_001093243.1:p.Lys224Asn
NM_000781.3:c.1146G>T MANE Select	NP_000772.2:p.Lys382Asn
NM_001099773.2:c.672G>T	NP_001093243.1:p.Lys224Asn