Canonical Allele Identifier: CA7659692
Gene: CYP1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.74749876G>A
GRCh37 chr15:g.75042217G>A
gnomAD v2:
15:75042217 G / A
gnomAD v3:
15:74749876 G / A
gnomAD v4:
chr15-74749876-G-A
Joint Max Group AF 0.00001969 (NFE)
Genomes Max Group AF 0.00002258 (AMR)
Exomes Max Group AF 0.00001921 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74749876G>A , CM000677.2:g.74749876G>A GRCh38
NC_000015.9:g.75042217G>A , CM000677.1:g.75042217G>A GRCh37
NC_000015.8:g.72829270G>A NCBI36
NG_008431.1:g.32335G>A
NG_008431.2:g.32335G>A
NG_061543.1:g.6032G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.138G>A MANE Select ENSP00000342007.4:p.Trp46Ter
ENST00000343932.4:c.138G>A ENSP00000342007.4:p.Trp46Ter
NM_000761.4:c.138G>A NP_000752.2:p.Trp46Ter
NM_000761.5:c.138G>A MANE Select NP_000752.2:p.Trp46Ter
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