Canonical Allele Identifier: CA371359998

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369094T>A (hg19) ; chr8:g.66456859T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456859T>A , CM000670.2:g.66456859T>A	GRCh38
NC_000008.10:g.67369094T>A , CM000670.1:g.67369094T>A	GRCh37
NC_000008.9:g.67531648T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1029T>A MANE Select	ENSP00000379865.3:p.Tyr343Ter
ENST00000648156.1:c.*248T>A	ENSP00000497007.1:n.*248T>A
ENST00000276576.11:c.*865T>A	ENSP00000276576.7:n.*865T>A
ENST00000396623.7:c.1029T>A	ENSP00000379865.3:p.Tyr343Ter
ENST00000415254.5:c.885T>A	ENSP00000407115.1:p.Tyr295Ter
ENST00000419955.5:c.*1038T>A	ENSP00000392040.1:n.*1038T>A
ENST00000424777.6:c.*466T>A	ENSP00000410883.2:n.*466T>A
ENST00000426810.5:c.*1214T>A	ENSP00000406905.1:n.*1214T>A
ENST00000480040.5:n.104T>A
ENST00000496501.5:n.903T>A
NM_144650.2:c.1029T>A	NP_653251.2:p.Tyr343Ter
NM_144650.3:c.1029T>A MANE Select	NP_653251.2:p.Tyr343Ter