Canonical Allele Identifier: CA1790503962

Gene: ADHFE1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456853G= , CM000670.2:g.66456853G=	GRCh38
NC_000008.10:g.67369088G= , CM000670.1:g.67369088G=	GRCh37
NC_000008.9:g.67531642G=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1023G= MANE Select	ENSP00000379865.3:p.Lys341=
ENST00000648156.1:c.*242G=	ENSP00000497007.1:n.*242G=
ENST00000276576.11:c.*859G=	ENSP00000276576.7:n.*859G=
ENST00000396623.7:c.1023G=	ENSP00000379865.3:p.Lys341=
ENST00000415254.5:c.879G=	ENSP00000407115.1:p.Lys293=
ENST00000419955.5:c.*1032G=	ENSP00000392040.1:n.*1032G=
ENST00000424777.6:c.*460G=	ENSP00000410883.2:n.*460G=
ENST00000426810.5:c.*1208G=	ENSP00000406905.1:n.*1208G=
ENST00000480040.5:n.98G=
ENST00000496501.5:n.897G=
NM_144650.2:c.1023G=	NP_653251.2:p.Lys341=
NM_144650.3:c.1023G= MANE Select	NP_653251.2:p.Lys341=