Canonical Allele Identifier: CA127237
Gene: CYP11A1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.74339687G>A
GRCh37 chr15:g.74632028G>A
Revel Score:
ENST00000268053 (MANE Select) 0.846
ENST00000358632 0.846
ENST00000419019 0.846
ENST00000452422 0.846
gnomAD v2:
15:74632028 G / A
gnomAD v3:
15:74339687 G / A
gnomAD v4:
chr15-74339687-G-A
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV000019069
ClinVar Variation:
17517
dbSNP:
72547508
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339687G>A , CM000677.2:g.74339687G>A GRCh38
NC_000015.9:g.74632028G>A , CM000677.1:g.74632028G>A GRCh37
NC_000015.8:g.72419081G>A NCBI36
NG_007973.1:g.33055C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1057C>T MANE Select ENSP00000268053.6:p.Arg353Trp
ENST00000268053.10:c.1057C>T ENSP00000268053.6:p.Arg353Trp
ENST00000358632.8:c.583C>T ENSP00000351455.4:p.Arg195Trp
ENST00000435365.5:c.1057C>T ENSP00000391081.1:p.Arg353Trp
ENST00000566674.5:c.583C>T ENSP00000456941.1:p.Arg195Trp
NM_000781.2:c.1057C>T NP_000772.2:p.Arg353Trp
NM_001099773.1:c.583C>T NP_001093243.1:p.Arg195Trp
NM_000781.3:c.1057C>T MANE Select NP_000772.2:p.Arg353Trp
NM_001099773.2:c.583C>T NP_001093243.1:p.Arg195Trp
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