Canonical Allele Identifier: CA371359995

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369093A>T (hg19) ; chr8:g.66456858A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456858A>T , CM000670.2:g.66456858A>T	GRCh38
NC_000008.10:g.67369093A>T , CM000670.1:g.67369093A>T	GRCh37
NC_000008.9:g.67531647A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1028A>T MANE Select	ENSP00000379865.3:p.Tyr343Phe
ENST00000648156.1:c.*247A>T	ENSP00000497007.1:n.*247A>T
ENST00000276576.11:c.*864A>T	ENSP00000276576.7:n.*864A>T
ENST00000396623.7:c.1028A>T	ENSP00000379865.3:p.Tyr343Phe
ENST00000415254.5:c.884A>T	ENSP00000407115.1:p.Tyr295Phe
ENST00000419955.5:c.*1037A>T	ENSP00000392040.1:n.*1037A>T
ENST00000424777.6:c.*465A>T	ENSP00000410883.2:n.*465A>T
ENST00000426810.5:c.*1213A>T	ENSP00000406905.1:n.*1213A>T
ENST00000480040.5:n.103A>T
ENST00000496501.5:n.902A>T
NM_144650.2:c.1028A>T	NP_653251.2:p.Tyr343Phe
NM_144650.3:c.1028A>T MANE Select	NP_653251.2:p.Tyr343Phe