Canonical Allele Identifier: CA1790503971

Gene: ADHFE1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456856G= , CM000670.2:g.66456856G=	GRCh38
NC_000008.10:g.67369091G= , CM000670.1:g.67369091G=	GRCh37
NC_000008.9:g.67531645G=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1026G= MANE Select	ENSP00000379865.3:p.Met342=
ENST00000648156.1:c.*245G=	ENSP00000497007.1:n.*245G=
ENST00000276576.11:c.*862G=	ENSP00000276576.7:n.*862G=
ENST00000396623.7:c.1026G=	ENSP00000379865.3:p.Met342=
ENST00000415254.5:c.882G=	ENSP00000407115.1:p.Met294=
ENST00000419955.5:c.*1035G=	ENSP00000392040.1:n.*1035G=
ENST00000424777.6:c.*463G=	ENSP00000410883.2:n.*463G=
ENST00000426810.5:c.*1211G=	ENSP00000406905.1:n.*1211G=
ENST00000480040.5:n.101G=
ENST00000496501.5:n.900G=
NM_144650.2:c.1026G=	NP_653251.2:p.Met342=
NM_144650.3:c.1026G= MANE Select	NP_653251.2:p.Met342=