Canonical Allele Identifier: CA971485303

Gene: CYP11A1

Linked Data

• dbSNP Id: rs2060628800
• gnomAD v3: 15-74345453-G-C
• gnomAD v4: 15-74345453-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74345453G>C , CM000677.2:g.74345453G>C	GRCh38
NC_000015.9:g.74637794G>C , CM000677.1:g.74637794G>C	GRCh37
NC_000015.8:g.72424847G>C	NCBI36
NG_007973.1:g.27289C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.426-210C>G MANE Select	ENSP00000268053.6:n.426-210C>G
ENST00000268053.10:c.426-210C>G	ENSP00000268053.6:n.426-210C>G
ENST00000358632.8:c.-49-210C>G	ENSP00000351455.4:n.-49-210C>G
ENST00000416978.1:c.426-163C>G	ENSP00000388018.1:n.426-163C>G
ENST00000435365.5:c.426-210C>G	ENSP00000391081.1:n.426-210C>G
ENST00000450547.1:c.-49-210C>G	ENSP00000402064.1:n.-49-210C>G
ENST00000466978.1:n.820-210C>G
ENST00000566674.5:c.-49-210C>G	ENSP00000456941.1:n.-49-210C>G
ENST00000569662.1:c.-49-210C>G	ENSP00000456598.1:n.-49-210C>G
NM_000781.2:c.426-210C>G	NP_000772.2:n.426-210C>G
NM_001099773.1:c.-49-210C>G	NP_001093243.1:n.-49-210C>G
NM_000781.3:c.426-210C>G MANE Select	NP_000772.2:n.426-210C>G
NM_001099773.2:c.-49-210C>G	NP_001093243.1:n.-49-210C>G