Canonical Allele Identifier: CA393177677
Gene: CYP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2486390
ClinVar RCV Id: RCV004273043
dbSNP Id: rs1236685625
gnomAD v2: 15-75042299-G-A
gnomAD v4: 15-74749958-G-A
MyVariant Identifiers: chr15:g.75042299G>A (hg19) chr15:g.74749958G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74749958G>A , CM000677.2:g.74749958G>A GRCh38
NC_000015.9:g.75042299G>A , CM000677.1:g.75042299G>A GRCh37
NC_000015.8:g.72829352G>A NCBI36
NG_008431.1:g.32417G>A
NG_008431.2:g.32417G>A
NG_061543.1:g.6114G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.220G>A MANE Select ENSP00000342007.4:p.Asp74Asn
ENST00000343932.4:c.220G>A ENSP00000342007.4:p.Asp74Asn
NM_000761.4:c.220G>A NP_000752.2:p.Asp74Asn
NM_000761.5:c.220G>A MANE Select NP_000752.2:p.Asp74Asn
Search 100 bp 5'
Search 100 bp 3'