Canonical Allele Identifier: CA371359948

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369084T>A (hg19) ; chr8:g.66456849T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456849T>A , CM000670.2:g.66456849T>A	GRCh38
NC_000008.10:g.67369084T>A , CM000670.1:g.67369084T>A	GRCh37
NC_000008.9:g.67531638T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1019T>A MANE Select	ENSP00000379865.3:p.Val340Glu
ENST00000648156.1:c.*238T>A	ENSP00000497007.1:n.*238T>A
ENST00000276576.11:c.*855T>A	ENSP00000276576.7:n.*855T>A
ENST00000396623.7:c.1019T>A	ENSP00000379865.3:p.Val340Glu
ENST00000415254.5:c.875T>A	ENSP00000407115.1:p.Val292Glu
ENST00000419955.5:c.*1028T>A	ENSP00000392040.1:n.*1028T>A
ENST00000424777.6:c.*456T>A	ENSP00000410883.2:n.*456T>A
ENST00000426810.5:c.*1204T>A	ENSP00000406905.1:n.*1204T>A
ENST00000480040.5:n.94T>A
ENST00000496501.5:n.893T>A
NM_144650.2:c.1019T>A	NP_653251.2:p.Val340Glu
NM_144650.3:c.1019T>A MANE Select	NP_653251.2:p.Val340Glu