Canonical Allele Identifier: CA715670295
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1289557386
gnomAD v3: 15-74754592-AG-A
gnomAD v4: 15-74754592-AG-A
MyVariant Identifiers: chr15:g.75046934del (hg19) chr15:g.74754593del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74754595del , CM000677.2:g.74754595del GRCh38
NC_000015.9:g.75046936del , CM000677.1:g.75046936del GRCh37
NC_000015.8:g.72833989del NCBI36
NG_008431.1:g.37054del
NG_008431.2:g.37054del
NG_061543.1:g.10751del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.1254-196del MANE Select ENSP00000342007.4:n.1254-196del
ENST00000343932.4:c.1254-196del ENSP00000342007.4:n.1254-196del
NM_000761.4:c.1254-196del NP_000752.2:n.1254-196del
NM_000761.5:c.1254-196del MANE Select NP_000752.2:n.1254-196del
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