Canonical Allele Identifier: CA272816175
Gene: CYP1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.74755085T>C
gnomAD v3:
15:74755085 T / C
gnomAD v4:
chr15-74755085-T-C
Joint Max Group AF 0.88802782 (AFR)
Genomes Max Group AF 0.87818714 (AFR)
Exomes Max Group AF 0.89503448 (AFR)
ClinVar RCV:
RCV000947637
ClinVar Variation:
768718
dbSNP:
2470890
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755085T>C , CM000677.2:g.74755085T>C GRCh38
NG_008431.2:g.37544T>C
NG_061543.1:g.11241T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.1548T>C MANE Select ENSP00000342007.4:p.Asn516=
ENST00000343932.4:c.1548T>C ENSP00000342007.4:p.Asn516=
NM_000761.4:c.1548T>C NP_000752.2:p.Asn516=
NM_000761.5:c.1548T>C MANE Select NP_000752.2:p.Asn516=
Search 100 bp 5'
Search 100 bp 3'