Canonical Allele Identifier: CA371360120

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369118T>G (hg19) ; chr8:g.66456883T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456883T>G , CM000670.2:g.66456883T>G	GRCh38
NC_000008.10:g.67369118T>G , CM000670.1:g.67369118T>G	GRCh37
NC_000008.9:g.67531672T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396623.8:c.1053T>G MANE Select	ENSP00000379865.3:p.Asp351Glu
ENST00000648156.1:c.*272T>G	ENSP00000497007.1:n.*272T>G
ENST00000276576.11:c.*889T>G	ENSP00000276576.7:n.*889T>G
ENST00000396623.7:c.1053T>G	ENSP00000379865.3:p.Asp351Glu
ENST00000415254.5:c.909T>G	ENSP00000407115.1:p.Asp303Glu
ENST00000419955.5:c.*1062T>G	ENSP00000392040.1:n.*1062T>G
ENST00000424777.6:c.*490T>G	ENSP00000410883.2:n.*490T>G
ENST00000426810.5:c.*1238T>G	ENSP00000406905.1:n.*1238T>G
ENST00000480040.5:n.128T>G
ENST00000496501.5:n.927T>G
NM_144650.2:c.1053T>G	NP_653251.2:p.Asp351Glu
NM_144650.3:c.1053T>G MANE Select	NP_653251.2:p.Asp351Glu