Canonical Allele Identifier: CA1790503966

Gene: ADHFE1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456855T= , CM000670.2:g.66456855T=	GRCh38
NC_000008.10:g.67369090T= , CM000670.1:g.67369090T=	GRCh37
NC_000008.9:g.67531644T=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1025T= MANE Select	ENSP00000379865.3:p.Met342=
ENST00000648156.1:c.*244T=	ENSP00000497007.1:n.*244T=
ENST00000276576.11:c.*861T=	ENSP00000276576.7:n.*861T=
ENST00000396623.7:c.1025T=	ENSP00000379865.3:p.Met342=
ENST00000415254.5:c.881T=	ENSP00000407115.1:p.Met294=
ENST00000419955.5:c.*1034T=	ENSP00000392040.1:n.*1034T=
ENST00000424777.6:c.*462T=	ENSP00000410883.2:n.*462T=
ENST00000426810.5:c.*1210T=	ENSP00000406905.1:n.*1210T=
ENST00000480040.5:n.100T=
ENST00000496501.5:n.899T=
NM_144650.2:c.1025T=	NP_653251.2:p.Met342=
NM_144650.3:c.1025T= MANE Select	NP_653251.2:p.Met342=