Canonical Allele Identifier: CA15857059
Gene: CYP11A1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.74338282T>C
GRCh37 chr15:g.74630623T>C
gnomAD v2:
15:74630623 T / C
gnomAD v3:
15:74338282 T / C
gnomAD v4:
chr15-74338282-T-C
Joint Max Group AF 0.7065034 (NFE)
Genomes Max Group AF 0.70509095 (NFE)
Exomes Max Group AF 0.70600039 (NFE)
ClinVar RCV:
RCV001721959
ClinVar Variation:
1295294
dbSNP:
2279357
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74338282T>C , CM000677.2:g.74338282T>C GRCh38
NC_000015.9:g.74630623T>C , CM000677.1:g.74630623T>C GRCh37
NC_000015.8:g.72417676T>C NCBI36
NG_007973.1:g.34460A>G
NG_054754.1:g.140578T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1435-179A>G MANE Select ENSP00000268053.6:n.1435-179A>G
ENST00000268053.10:c.1435-179A>G ENSP00000268053.6:n.1435-179A>G
ENST00000358632.8:c.961-179A>G ENSP00000351455.4:n.961-179A>G
ENST00000435365.5:c.*111-179A>G ENSP00000391081.1:n.*111-179A>G
ENST00000498141.1:n.528+38A>G
NM_000781.2:c.1435-179A>G NP_000772.2:n.1435-179A>G
NM_001099773.1:c.961-179A>G NP_001093243.1:n.961-179A>G
NM_000781.3:c.1435-179A>G MANE Select NP_000772.2:n.1435-179A>G
NM_001099773.2:c.961-179A>G NP_001093243.1:n.961-179A>G
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