Canonical Allele Identifier: CA1946816918
Gene: CYP2E1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538889C= , CM000672.2:g.133538889C= GRCh38
NC_000010.10:g.135352393C= , CM000672.1:g.135352393C= GRCh37
NC_000010.9:g.135202383C= NCBI36
NG_008383.1:g.16527C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1407C= MANE Select ENSP00000252945.3:p.Ile469=
ENST00000252945.7:c.1407C= ENSP00000252945.3:p.Ile469=
ENST00000368520.1:n.1358+997C=
ENST00000463117.6:c.1407C= ENSP00000440689.1:p.Ile469=
ENST00000469258.1:n.503C=
NM_000773.3:c.1407C= NP_000764.1:p.Ile469=
NM_000773.4:c.1407C= MANE Select NP_000764.1:p.Ile469=