Canonical Allele Identifier: CA7656397
Gene: CYP11A1 HGNC NCBI

Linked Data

dbSNP Id: rs756853122
ExAC: 15:74632097 G / T
gnomAD v2: 15-74632097-G-T
gnomAD v3: 15-74339756-G-T
gnomAD v4: 15-74339756-G-T
MyVariant Identifiers: chr15:g.74632097G>T (hg19) chr15:g.74339756G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339756G>T , CM000677.2:g.74339756G>T GRCh38
NC_000015.9:g.74632097G>T , CM000677.1:g.74632097G>T GRCh37
NC_000015.8:g.72419150G>T NCBI36
NG_007973.1:g.32986C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.991-3C>A MANE Select ENSP00000268053.6:n.991-3C>A
ENST00000268053.10:c.991-3C>A ENSP00000268053.6:n.991-3C>A
ENST00000358632.8:c.517-3C>A ENSP00000351455.4:n.517-3C>A
ENST00000435365.5:c.991-3C>A ENSP00000391081.1:n.991-3C>A
ENST00000566674.5:c.517-3C>A ENSP00000456941.1:n.517-3C>A
NM_000781.2:c.991-3C>A NP_000772.2:n.991-3C>A
NM_001099773.1:c.517-3C>A NP_001093243.1:n.517-3C>A
NM_000781.3:c.991-3C>A MANE Select NP_000772.2:n.991-3C>A
NM_001099773.2:c.517-3C>A NP_001093243.1:n.517-3C>A
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