Canonical Allele Identifier: CA7659947

Gene: CYP1A2

Linked Data

• dbSNP Id: rs762889491
• ExAC: 15:75044201 TG / T
• gnomAD v2: 15-75044201-TG-T
• gnomAD v3: 15-74751860-TG-T
• gnomAD v4: 15-74751860-TG-T
• MyVariant Identifiers: chr15:g.75044202del (hg19) ; chr15:g.74751861del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74751865del , CM000677.2:g.74751865del	GRCh38
NC_000015.9:g.75044206del , CM000677.1:g.75044206del	GRCh37
NC_000015.8:g.72831259del	NCBI36
NG_008431.1:g.34324del
NG_008431.2:g.34324del
NG_061543.1:g.8021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343932.5:c.1042+11del MANE Select	ENSP00000342007.4:n.1042+11del
ENST00000343932.4:c.1042+11del	ENSP00000342007.4:n.1042+11del
NM_000761.4:c.1042+11del	NP_000752.2:n.1042+11del
NM_000761.5:c.1042+11del MANE Select	NP_000752.2:n.1042+11del