Canonical Allele Identifier: CA7656383

Gene: CYP11A1

Linked Data

• dbSNP Id: rs769648242
• ExAC: 15:74632040 G / T
• gnomAD v2: 15-74632040-G-T
• gnomAD v4: 15-74339699-G-T
• MyVariant Identifiers: chr15:g.74632040G>T (hg19) ; chr15:g.74339699G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339699G>T , CM000677.2:g.74339699G>T	GRCh38
NC_000015.9:g.74632040G>T , CM000677.1:g.74632040G>T	GRCh37
NC_000015.8:g.72419093G>T	NCBI36
NG_007973.1:g.33043C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1045C>A MANE Select	ENSP00000268053.6:p.Gln349Lys
ENST00000268053.10:c.1045C>A	ENSP00000268053.6:p.Gln349Lys
ENST00000358632.8:c.571C>A	ENSP00000351455.4:p.Gln191Lys
ENST00000435365.5:c.1045C>A	ENSP00000391081.1:p.Gln349Lys
ENST00000566674.5:c.571C>A	ENSP00000456941.1:p.Gln191Lys
NM_000781.2:c.1045C>A	NP_000772.2:p.Gln349Lys
NM_001099773.1:c.571C>A	NP_001093243.1:p.Gln191Lys
NM_000781.3:c.1045C>A MANE Select	NP_000772.2:p.Gln349Lys
NM_001099773.2:c.571C>A	NP_001093243.1:p.Gln191Lys