Canonical Allele Identifier: CA1790503959

Gene: ADHFE1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456850G= , CM000670.2:g.66456850G=	GRCh38
NC_000008.10:g.67369085G= , CM000670.1:g.67369085G=	GRCh37
NC_000008.9:g.67531639G=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1020G= MANE Select	ENSP00000379865.3:p.Val340=
ENST00000648156.1:c.*239G=	ENSP00000497007.1:n.*239G=
ENST00000276576.11:c.*856G=	ENSP00000276576.7:n.*856G=
ENST00000396623.7:c.1020G=	ENSP00000379865.3:p.Val340=
ENST00000415254.5:c.876G=	ENSP00000407115.1:p.Val292=
ENST00000419955.5:c.*1029G=	ENSP00000392040.1:n.*1029G=
ENST00000424777.6:c.*457G=	ENSP00000410883.2:n.*457G=
ENST00000426810.5:c.*1205G=	ENSP00000406905.1:n.*1205G=
ENST00000480040.5:n.95G=
ENST00000496501.5:n.894G=
NM_144650.2:c.1020G=	NP_653251.2:p.Val340=
NM_144650.3:c.1020G= MANE Select	NP_653251.2:p.Val340=