Canonical Allele Identifier: CA7659681
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs201934979
ExAC: 15:75042179 C / T
gnomAD v2: 15-75042179-C-T
gnomAD v3: 15-74749838-C-T
gnomAD v4: 15-74749838-C-T
COSMIC: COSM122455
MyVariant Identifiers: chr15:g.75042179C>T (hg19) chr15:g.75042179_75042180delinsTG (hg19) chr15:g.74749838C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74749838C>T , CM000677.2:g.74749838C>T GRCh38
NC_000015.9:g.75042179C>T , CM000677.1:g.75042179C>T GRCh37
NC_000015.8:g.72829232C>T NCBI36
NG_008431.1:g.32297C>T
NG_008431.2:g.32297C>T
NG_061543.1:g.5994C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343932.5:c.100C>T MANE Select ENSP00000342007.4:p.Arg34Trp
ENST00000343932.4:c.100C>T ENSP00000342007.4:p.Arg34Trp
NM_000761.4:c.100C>T NP_000752.2:p.Arg34Trp
NM_000761.5:c.100C>T MANE Select NP_000752.2:p.Arg34Trp
Search 100 bp 5'
Search 100 bp 3'