Canonical Allele Identifier: CA1790504067
Gene: ADHFE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.66456974C= , CM000670.2:g.66456974C= GRCh38
NC_000008.10:g.67369209C= , CM000670.1:g.67369209C= GRCh37
NC_000008.9:g.67531763C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000396623.8:c.1065+79C= MANE Select ENSP00000379865.3:n.1065+79C=
ENST00000648156.1:c.*284+79C= ENSP00000497007.1:n.*284+79C=
ENST00000276576.11:c.*901+79C= ENSP00000276576.7:n.*901+79C=
ENST00000396623.7:c.1065+79C= ENSP00000379865.3:n.1065+79C=
ENST00000415254.5:c.921+79C= ENSP00000407115.1:n.921+79C=
ENST00000419955.5:c.*1074+79C= ENSP00000392040.1:n.*1074+79C=
ENST00000424777.6:c.*502+79C= ENSP00000410883.2:n.*502+79C=
ENST00000426810.5:c.*1250+79C= ENSP00000406905.1:n.*1250+79C=
ENST00000480040.5:n.140+79C=
ENST00000496501.5:n.939+79C=
NM_144650.2:c.1065+79C= NP_653251.2:n.1065+79C=
NM_144650.3:c.1065+79C= MANE Select NP_653251.2:n.1065+79C=
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