Canonical Allele Identifier: CA1790503975

Gene: ADHFE1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456859T= , CM000670.2:g.66456859T=	GRCh38
NC_000008.10:g.67369094T= , CM000670.1:g.67369094T=	GRCh37
NC_000008.9:g.67531648T=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1029T= MANE Select	ENSP00000379865.3:p.Tyr343=
ENST00000648156.1:c.*248T=	ENSP00000497007.1:n.*248T=
ENST00000276576.11:c.*865T=	ENSP00000276576.7:n.*865T=
ENST00000396623.7:c.1029T=	ENSP00000379865.3:p.Tyr343=
ENST00000415254.5:c.885T=	ENSP00000407115.1:p.Tyr295=
ENST00000419955.5:c.*1038T=	ENSP00000392040.1:n.*1038T=
ENST00000424777.6:c.*466T=	ENSP00000410883.2:n.*466T=
ENST00000426810.5:c.*1214T=	ENSP00000406905.1:n.*1214T=
ENST00000480040.5:n.104T=
ENST00000496501.5:n.903T=
NM_144650.2:c.1029T=	NP_653251.2:p.Tyr343=
NM_144650.3:c.1029T= MANE Select	NP_653251.2:p.Tyr343=