Canonical Allele Identifier: CA1790505508

Gene: ADHFE1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66448490C= , CM000670.2:g.66448490C=	GRCh38
NC_000008.10:g.67360725C= , CM000670.1:g.67360725C=	GRCh37
NC_000008.9:g.67523279C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_144650.3:c.629-375C= MANE Select	NP_653251.2:n.629-375C=
ENST00000396623.8:c.629-375C= MANE Select	ENSP00000379865.3:n.629-375C=
NM_144650.2:c.629-375C=	NP_653251.2:n.629-375C=
ENST00000276576.11:c.*465-375C=	ENSP00000276576.7:n.*465-375C=
ENST00000396621.7:c.*51-375C=	ENSP00000379864.3:n.*51-375C=
ENST00000396623.7:c.629-375C=	ENSP00000379865.3:n.629-375C=
ENST00000415254.5:c.485-375C=	ENSP00000407115.1:n.485-375C=
ENST00000419955.5:c.*289-375C=	ENSP00000392040.1:n.*289-375C=
ENST00000422166.5:c.354-375C=	ENSP00000387956.1:n.354-375C=
ENST00000424777.6:c.629-375C=	ENSP00000410883.2:n.629-375C=
ENST00000426810.5:c.*465-375C=	ENSP00000406905.1:n.*465-375C=
ENST00000443372.5:c.*239-375C=	ENSP00000409714.1:n.*239-375C=
ENST00000496501.5:n.503-375C=
ENST00000648156.1:c.485-375C=	ENSP00000497007.1:n.485-375C=