Canonical Allele Identifier: CA7659695
Gene: CYP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2353406
ClinVar RCV Id: RCV004194780
dbSNP Id: rs201763966
ExAC: 15:75042221 T / G
gnomAD v2: 15-75042221-T-G
gnomAD v3: 15-74749880-T-G
gnomAD v4: 15-74749880-T-G
MyVariant Identifiers: chr15:g.75042221T>G (hg19) chr15:g.74749880T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74749880T>G , CM000677.2:g.74749880T>G GRCh38
NC_000015.9:g.75042221T>G , CM000677.1:g.75042221T>G GRCh37
NC_000015.8:g.72829274T>G NCBI36
NG_008431.1:g.32339T>G
NG_008431.2:g.32339T>G
NG_061543.1:g.6036T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.142T>G MANE Select ENSP00000342007.4:p.Trp48Gly
ENST00000343932.4:c.142T>G ENSP00000342007.4:p.Trp48Gly
NM_000761.4:c.142T>G NP_000752.2:p.Trp48Gly
NM_000761.5:c.142T>G MANE Select NP_000752.2:p.Trp48Gly
Search 100 bp 5'
Search 100 bp 3'