Canonical Allele Identifier: CA7659969

Gene: CYP1A2

Linked Data

• dbSNP Id: rs762596817
• ExAC: 15:75044464 GAC / G
• gnomAD v2: 15-75044464-GAC-G
• gnomAD v3: 15-74752123-GAC-G
• gnomAD v4: 15-74752123-GAC-G
• MyVariant Identifiers: chr15:g.75044465_75044466del (hg19) ; chr15:g.74752124_74752125del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74752126_74752127del , CM000677.2:g.74752126_74752127del	GRCh38
NC_000015.9:g.75044467_75044468del , CM000677.1:g.75044467_75044468del	GRCh37
NC_000015.8:g.72831520_72831521del	NCBI36
NG_008431.1:g.34585_34586del
NG_008431.2:g.34585_34586del
NG_061543.1:g.8282_8283del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343932.5:c.1045_1046del MANE Select	ENSP00000342007.4:p.Thr349CysfsTer12
ENST00000343932.4:c.1045_1046del	ENSP00000342007.4:p.Thr349CysfsTer12
NM_000761.4:c.1045_1046del	NP_000752.2:p.Thr349CysfsTer12
NM_000761.5:c.1045_1046del MANE Select	NP_000752.2:p.Thr349CysfsTer12