Canonical Allele Identifier: CA2780667125

Gene: ADHFE1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456942C>G , CM000670.2:g.66456942C>G	GRCh38
NC_000008.10:g.67369177C>G , CM000670.1:g.67369177C>G	GRCh37
NC_000008.9:g.67531731C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396623.8:c.1065+47C>G MANE Select	ENSP00000379865.3:n.1065+47C>G
ENST00000648156.1:c.*284+47C>G	ENSP00000497007.1:n.*284+47C>G
ENST00000276576.11:c.*901+47C>G	ENSP00000276576.7:n.*901+47C>G
ENST00000396623.7:c.1065+47C>G	ENSP00000379865.3:n.1065+47C>G
ENST00000415254.5:c.921+47C>G	ENSP00000407115.1:n.921+47C>G
ENST00000419955.5:c.*1074+47C>G	ENSP00000392040.1:n.*1074+47C>G
ENST00000424777.6:c.*502+47C>G	ENSP00000410883.2:n.*502+47C>G
ENST00000426810.5:c.*1250+47C>G	ENSP00000406905.1:n.*1250+47C>G
ENST00000480040.5:n.140+47C>G
ENST00000496501.5:n.939+47C>G
NM_144650.2:c.1065+47C>G	NP_653251.2:n.1065+47C>G
NM_144650.3:c.1065+47C>G MANE Select	NP_653251.2:n.1065+47C>G