Canonical Allele Identifier: CA1790503974

Gene: ADHFE1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456858A= , CM000670.2:g.66456858A=	GRCh38
NC_000008.10:g.67369093A= , CM000670.1:g.67369093A=	GRCh37
NC_000008.9:g.67531647A=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1028A= MANE Select	ENSP00000379865.3:p.Tyr343=
ENST00000648156.1:c.*247A=	ENSP00000497007.1:n.*247A=
ENST00000276576.11:c.*864A=	ENSP00000276576.7:n.*864A=
ENST00000396623.7:c.1028A=	ENSP00000379865.3:p.Tyr343=
ENST00000415254.5:c.884A=	ENSP00000407115.1:p.Tyr295=
ENST00000419955.5:c.*1037A=	ENSP00000392040.1:n.*1037A=
ENST00000424777.6:c.*465A=	ENSP00000410883.2:n.*465A=
ENST00000426810.5:c.*1213A=	ENSP00000406905.1:n.*1213A=
ENST00000480040.5:n.103A=
ENST00000496501.5:n.902A=
NM_144650.2:c.1028A=	NP_653251.2:p.Tyr343=
NM_144650.3:c.1028A= MANE Select	NP_653251.2:p.Tyr343=