Canonical Allele Identifier: CA715671379
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1041862747
gnomAD v3: 15-74755370-CAAAA-C
gnomAD v4: 15-74755370-CAAAA-C
MyVariant Identifiers: chr15:g.75047712_75047715del (hg19) chr15:g.74755371_74755374del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755377_74755380del , CM000677.2:g.74755377_74755380del GRCh38
NC_000015.9:g.75047718_75047721del , CM000677.1:g.75047718_75047721del GRCh37
NC_000015.8:g.72834771_72834774del NCBI36
NG_008431.1:g.37836_37839del
NG_008431.2:g.37836_37839del
NG_061543.1:g.11533_11536del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.*289_*292del MANE Select ENSP00000342007.4:n.*289_*292del
ENST00000343932.4:c.*289_*292del ENSP00000342007.4:n.*289_*292del
NM_000761.4:c.*289_*292del NP_000752.2:n.*289_*292del
NM_000761.5:c.*289_*292del MANE Select NP_000752.2:n.*289_*292del
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