Canonical Allele Identifier: CA393177599
Gene: CYP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2309247
ClinVar RCV Id: RCV004161958

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74749942G>A , CM000677.2:g.74749942G>A GRCh38
NC_000015.9:g.75042283G>A , CM000677.1:g.75042283G>A GRCh37
NC_000015.8:g.72829336G>A NCBI36
NG_008431.1:g.32401G>A
NG_008431.2:g.32401G>A
NG_061543.1:g.6098G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.204G>A MANE Select ENSP00000342007.4:p.Met68Ile
ENST00000343932.4:c.204G>A ENSP00000342007.4:p.Met68Ile
NM_000761.4:c.204G>A NP_000752.2:p.Met68Ile
NM_000761.5:c.204G>A MANE Select NP_000752.2:p.Met68Ile