Canonical Allele Identifier: CA2687481488
Gene: ADHFE1 HGNC NCBI

Linked Data

gnomAD v4: 8-66456964-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.66456964C>A , CM000670.2:g.66456964C>A GRCh38
NC_000008.10:g.67369199C>A , CM000670.1:g.67369199C>A GRCh37
NC_000008.9:g.67531753C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000396623.8:c.1065+69C>A MANE Select ENSP00000379865.3:n.1065+69C>A
ENST00000648156.1:c.*284+69C>A ENSP00000497007.1:n.*284+69C>A
ENST00000276576.11:c.*901+69C>A ENSP00000276576.7:n.*901+69C>A
ENST00000396623.7:c.1065+69C>A ENSP00000379865.3:n.1065+69C>A
ENST00000415254.5:c.921+69C>A ENSP00000407115.1:n.921+69C>A
ENST00000419955.5:c.*1074+69C>A ENSP00000392040.1:n.*1074+69C>A
ENST00000424777.6:c.*502+69C>A ENSP00000410883.2:n.*502+69C>A
ENST00000426810.5:c.*1250+69C>A ENSP00000406905.1:n.*1250+69C>A
ENST00000480040.5:n.140+69C>A
ENST00000496501.5:n.939+69C>A
NM_144650.2:c.1065+69C>A NP_653251.2:n.1065+69C>A
NM_144650.3:c.1065+69C>A MANE Select NP_653251.2:n.1065+69C>A
Search 100 bp 5'
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