Canonical Allele Identifier: CA7659761
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs377141209
ExAC: 15:75042425 C / T
gnomAD v2: 15-75042425-C-T
gnomAD v4: 15-74750084-C-T
MyVariant Identifiers: chr15:g.75042425C>T (hg19) chr15:g.74750084C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750084C>T , CM000677.2:g.74750084C>T GRCh38
NC_000015.9:g.75042425C>T , CM000677.1:g.75042425C>T GRCh37
NC_000015.8:g.72829478C>T NCBI36
NG_008431.1:g.32543C>T
NG_008431.2:g.32543C>T
NG_061543.1:g.6240C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.346C>T MANE Select ENSP00000342007.4:p.Leu116Phe
ENST00000343932.4:c.346C>T ENSP00000342007.4:p.Leu116Phe
NM_000761.4:c.346C>T NP_000752.2:p.Leu116Phe
NM_000761.5:c.346C>T MANE Select NP_000752.2:p.Leu116Phe
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