Canonical Allele Identifier: CA461157478

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369109C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456874C>T , CM000670.2:g.66456874C>T	GRCh38
NC_000008.10:g.67369109C>T , CM000670.1:g.67369109C>T	GRCh37
NC_000008.9:g.67531663C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396623.8:c.1044C>T MANE Select	ENSP00000379865.3:p.Tyr348=
ENST00000648156.1:c.*263C>T	ENSP00000497007.1:n.*263C>T
ENST00000276576.11:c.*880C>T	ENSP00000276576.7:n.*880C>T
ENST00000396623.7:c.1044C>T	ENSP00000379865.3:p.Tyr348=
ENST00000415254.5:c.900C>T	ENSP00000407115.1:p.Tyr300=
ENST00000419955.5:c.*1053C>T	ENSP00000392040.1:n.*1053C>T
ENST00000424777.6:c.*481C>T	ENSP00000410883.2:n.*481C>T
ENST00000426810.5:c.*1229C>T	ENSP00000406905.1:n.*1229C>T
ENST00000480040.5:n.119C>T
ENST00000496501.5:n.918C>T
NM_144650.2:c.1044C>T	NP_653251.2:p.Tyr348=
NM_144650.3:c.1044C>T MANE Select	NP_653251.2:p.Tyr348=