Canonical Allele Identifier: CA378841971

Gene: CYP2E1

Linked Data

• dbSNP Id: rs1182003917
• gnomAD v4: 10-133538785-C-T
• MyVariant Identifiers: chr10:g.135352289C>T (hg19) ; chr10:g.133538785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133538785C>T , CM000672.2:g.133538785C>T	GRCh38
NC_000010.10:g.135352289C>T , CM000672.1:g.135352289C>T	GRCh37
NC_000010.9:g.135202279C>T	NCBI36
NG_008383.1:g.16423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.1303C>T MANE Select	ENSP00000252945.3:p.Arg435Ter
ENST00000252945.7:c.1303C>T	ENSP00000252945.3:p.Arg435Ter
ENST00000368520.1:n.1358+893C>T
ENST00000418356.1:c.892C>T	ENSP00000397299.1:p.Arg298Ter
ENST00000421586.5:c.1042C>T	ENSP00000412754.1:p.Arg348Ter
ENST00000463117.6:c.1303C>T	ENSP00000440689.1:p.Arg435Ter
ENST00000469258.1:n.399C>T
ENST00000541080.5:c.719C>T
NM_000773.3:c.1303C>T	NP_000764.1:p.Arg435Ter
NM_000773.4:c.1303C>T MANE Select	NP_000764.1:p.Arg435Ter