Canonical Allele Identifier: CA7656394
Gene: CYP11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2752596
ClinVar RCV Id: RCV003566504
dbSNP Id: rs565170516
ExAC: 15:74632092 C / T
gnomAD v2: 15-74632092-C-T
gnomAD v3: 15-74339751-C-T
gnomAD v4: 15-74339751-C-T
MyVariant Identifiers: chr15:g.74632092C>T (hg19) chr15:g.74339751C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339751C>T , CM000677.2:g.74339751C>T GRCh38
NC_000015.9:g.74632092C>T , CM000677.1:g.74632092C>T GRCh37
NC_000015.8:g.72419145C>T NCBI36
NG_007973.1:g.32991G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.993G>A MANE Select ENSP00000268053.6:p.Thr331=
ENST00000268053.10:c.993G>A ENSP00000268053.6:p.Thr331=
ENST00000358632.8:c.519G>A ENSP00000351455.4:p.Thr173=
ENST00000435365.5:c.993G>A ENSP00000391081.1:p.Thr331=
ENST00000566674.5:c.519G>A ENSP00000456941.1:p.Thr173=
NM_000781.2:c.993G>A NP_000772.2:p.Thr331=
NM_001099773.1:c.519G>A NP_001093243.1:p.Thr173=
NM_000781.3:c.993G>A MANE Select NP_000772.2:p.Thr331=
NM_001099773.2:c.519G>A NP_001093243.1:p.Thr173=
Search 100 bp 5'
Search 100 bp 3'