Canonical Allele Identifier: CA619107413
Gene: CYP11A1 HGNC NCBI

Linked Data

dbSNP Id: rs1309400038
gnomAD v2: 15-74631924-T-C
gnomAD v3: 15-74339583-T-C
gnomAD v4: 15-74339583-T-C
MyVariant Identifiers: chr15:g.74631924T>C (hg19) chr15:g.74339583T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339583T>C , CM000677.2:g.74339583T>C GRCh38
NC_000015.9:g.74631924T>C , CM000677.1:g.74631924T>C GRCh37
NC_000015.8:g.72418977T>C NCBI36
NG_007973.1:g.33159A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000268053.11:c.1157+4A>G MANE Select ENSP00000268053.6:n.1157+4A>G
ENST00000268053.10:c.1157+4A>G ENSP00000268053.6:n.1157+4A>G
ENST00000358632.8:c.683+4A>G ENSP00000351455.4:n.683+4A>G
ENST00000435365.5:c.1157+4A>G ENSP00000391081.1:n.1157+4A>G
NM_000781.2:c.1157+4A>G NP_000772.2:n.1157+4A>G
NM_001099773.1:c.683+4A>G NP_001093243.1:n.683+4A>G
NM_000781.3:c.1157+4A>G MANE Select NP_000772.2:n.1157+4A>G
NM_001099773.2:c.683+4A>G NP_001093243.1:n.683+4A>G
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