Canonical Allele Identifier: CA7660106
Gene: CYP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2316484
ClinVar RCV Id: RCV004161428
dbSNP Id: rs751143438
ExAC: 15:75047280 A / C
gnomAD v2: 15-75047280-A-C
gnomAD v4: 15-74754939-A-C
MyVariant Identifiers: chr15:g.75047280A>C (hg19) chr15:g.74754939A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74754939A>C , CM000677.2:g.74754939A>C GRCh38
NC_000015.9:g.75047280A>C , CM000677.1:g.75047280A>C GRCh37
NC_000015.8:g.72834333A>C NCBI36
NG_008431.1:g.37398A>C
NG_008431.2:g.37398A>C
NG_061543.1:g.11095A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.1402A>C MANE Select ENSP00000342007.4:p.Ile468Leu
ENST00000343932.4:c.1402A>C ENSP00000342007.4:p.Ile468Leu
NM_000761.4:c.1402A>C NP_000752.2:p.Ile468Leu
NM_000761.5:c.1402A>C MANE Select NP_000752.2:p.Ile468Leu
Search 100 bp 5'
Search 100 bp 3'