Canonical Allele Identifier: CA1790504049
Gene: ADHFE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.66456956A= , CM000670.2:g.66456956A= GRCh38
NC_000008.10:g.67369191A= , CM000670.1:g.67369191A= GRCh37
NC_000008.9:g.67531745A= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000396623.8:c.1065+61A= MANE Select ENSP00000379865.3:n.1065+61A=
ENST00000648156.1:c.*284+61A= ENSP00000497007.1:n.*284+61A=
ENST00000276576.11:c.*901+61A= ENSP00000276576.7:n.*901+61A=
ENST00000396623.7:c.1065+61A= ENSP00000379865.3:n.1065+61A=
ENST00000415254.5:c.921+61A= ENSP00000407115.1:n.921+61A=
ENST00000419955.5:c.*1074+61A= ENSP00000392040.1:n.*1074+61A=
ENST00000424777.6:c.*502+61A= ENSP00000410883.2:n.*502+61A=
ENST00000426810.5:c.*1250+61A= ENSP00000406905.1:n.*1250+61A=
ENST00000480040.5:n.140+61A=
ENST00000496501.5:n.939+61A=
NM_144650.2:c.1065+61A= NP_653251.2:n.1065+61A=
NM_144650.3:c.1065+61A= MANE Select NP_653251.2:n.1065+61A=