Canonical Allele Identifier: CA7660062
Gene: CYP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2207969
ClinVar RCV Id: RCV004069997
dbSNP Id: rs145557631
ExAC: 15:75047161 G / T
gnomAD v2: 15-75047161-G-T
gnomAD v3: 15-74754820-G-T
gnomAD v4: 15-74754820-G-T
MyVariant Identifiers: chr15:g.75047161G>T (hg19) chr15:g.74754820G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74754820G>T , CM000677.2:g.74754820G>T GRCh38
NC_000015.9:g.75047161G>T , CM000677.1:g.75047161G>T GRCh37
NC_000015.8:g.72834214G>T NCBI36
NG_008431.1:g.37279G>T
NG_008431.2:g.37279G>T
NG_061543.1:g.10976G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.1283G>T MANE Select ENSP00000342007.4:p.Arg428Leu
ENST00000343932.4:c.1283G>T ENSP00000342007.4:p.Arg428Leu
NM_000761.4:c.1283G>T NP_000752.2:p.Arg428Leu
NM_000761.5:c.1283G>T MANE Select NP_000752.2:p.Arg428Leu
Search 100 bp 5'
Search 100 bp 3'