Canonical Allele Identifier: CA7660033
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs750625510
ExAC: 15:75045573 CTG / C
gnomAD v2: 15-75045573-CTG-C
gnomAD v4: 15-74753232-CTG-C
MyVariant Identifiers: chr15:g.75045574_75045575del (hg19) chr15:g.74753233_74753234del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74753236_74753237del , CM000677.2:g.74753236_74753237del GRCh38
NC_000015.9:g.75045577_75045578del , CM000677.1:g.75045577_75045578del GRCh37
NC_000015.8:g.72832630_72832631del NCBI36
NG_008431.1:g.35695_35696del
NG_008431.2:g.35695_35696del
NG_061543.1:g.9392_9393del

Transcript Alleles

HGVS Amino-acid change
ENST00000343932.5:c.1219_1220del MANE Select ENSP00000342007.4:p.Val407LeufsTer10
ENST00000343932.4:c.1219_1220del ENSP00000342007.4:p.Val407LeufsTer10
NM_000761.4:c.1219_1220del NP_000752.2:p.Val407LeufsTer10
NM_000761.5:c.1219_1220del MANE Select NP_000752.2:p.Val407LeufsTer10
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