Canonical Allele Identifier: CA1790504070
Gene: ADHFE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.66456975T= , CM000670.2:g.66456975T= GRCh38
NC_000008.10:g.67369210T= , CM000670.1:g.67369210T= GRCh37
NC_000008.9:g.67531764T= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000396623.8:c.1065+80T= MANE Select ENSP00000379865.3:n.1065+80T=
ENST00000648156.1:c.*284+80T= ENSP00000497007.1:n.*284+80T=
ENST00000276576.11:c.*901+80T= ENSP00000276576.7:n.*901+80T=
ENST00000396623.7:c.1065+80T= ENSP00000379865.3:n.1065+80T=
ENST00000415254.5:c.921+80T= ENSP00000407115.1:n.921+80T=
ENST00000419955.5:c.*1074+80T= ENSP00000392040.1:n.*1074+80T=
ENST00000424777.6:c.*502+80T= ENSP00000410883.2:n.*502+80T=
ENST00000426810.5:c.*1250+80T= ENSP00000406905.1:n.*1250+80T=
ENST00000480040.5:n.140+80T=
ENST00000496501.5:n.939+80T=
NM_144650.2:c.1065+80T= NP_653251.2:n.1065+80T=
NM_144650.3:c.1065+80T= MANE Select NP_653251.2:n.1065+80T=