Canonical Allele Identifier: CA371360106

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369114T>A (hg19) ; chr8:g.66456879T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456879T>A , CM000670.2:g.66456879T>A	GRCh38
NC_000008.10:g.67369114T>A , CM000670.1:g.67369114T>A	GRCh37
NC_000008.9:g.67531668T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396623.8:c.1049T>A MANE Select	ENSP00000379865.3:p.Val350Glu
ENST00000648156.1:c.*268T>A	ENSP00000497007.1:n.*268T>A
ENST00000276576.11:c.*885T>A	ENSP00000276576.7:n.*885T>A
ENST00000396623.7:c.1049T>A	ENSP00000379865.3:p.Val350Glu
ENST00000415254.5:c.905T>A	ENSP00000407115.1:p.Val302Glu
ENST00000419955.5:c.*1058T>A	ENSP00000392040.1:n.*1058T>A
ENST00000424777.6:c.*486T>A	ENSP00000410883.2:n.*486T>A
ENST00000426810.5:c.*1234T>A	ENSP00000406905.1:n.*1234T>A
ENST00000480040.5:n.124T>A
ENST00000496501.5:n.923T>A
NM_144650.2:c.1049T>A	NP_653251.2:p.Val350Glu
NM_144650.3:c.1049T>A MANE Select	NP_653251.2:p.Val350Glu