Canonical Allele Identifier: CA371360083

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369110A>T (hg19) ; chr8:g.66456875A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456875A>T , CM000670.2:g.66456875A>T	GRCh38
NC_000008.10:g.67369110A>T , CM000670.1:g.67369110A>T	GRCh37
NC_000008.9:g.67531664A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396623.8:c.1045A>T MANE Select	ENSP00000379865.3:p.Asn349Tyr
ENST00000648156.1:c.*264A>T	ENSP00000497007.1:n.*264A>T
ENST00000276576.11:c.*881A>T	ENSP00000276576.7:n.*881A>T
ENST00000396623.7:c.1045A>T	ENSP00000379865.3:p.Asn349Tyr
ENST00000415254.5:c.901A>T	ENSP00000407115.1:p.Asn301Tyr
ENST00000419955.5:c.*1054A>T	ENSP00000392040.1:n.*1054A>T
ENST00000424777.6:c.*482A>T	ENSP00000410883.2:n.*482A>T
ENST00000426810.5:c.*1230A>T	ENSP00000406905.1:n.*1230A>T
ENST00000480040.5:n.120A>T
ENST00000496501.5:n.919A>T
NM_144650.2:c.1045A>T	NP_653251.2:p.Asn349Tyr
NM_144650.3:c.1045A>T MANE Select	NP_653251.2:p.Asn349Tyr