Canonical Allele Identifier: CA461157476

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369103G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456868G>A , CM000670.2:g.66456868G>A	GRCh38
NC_000008.10:g.67369103G>A , CM000670.1:g.67369103G>A	GRCh37
NC_000008.9:g.67531657G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396623.8:c.1038G>A MANE Select	ENSP00000379865.3:p.Lys346=
ENST00000648156.1:c.*257G>A	ENSP00000497007.1:n.*257G>A
ENST00000276576.11:c.*874G>A	ENSP00000276576.7:n.*874G>A
ENST00000396623.7:c.1038G>A	ENSP00000379865.3:p.Lys346=
ENST00000415254.5:c.894G>A	ENSP00000407115.1:p.Lys298=
ENST00000419955.5:c.*1047G>A	ENSP00000392040.1:n.*1047G>A
ENST00000424777.6:c.*475G>A	ENSP00000410883.2:n.*475G>A
ENST00000426810.5:c.*1223G>A	ENSP00000406905.1:n.*1223G>A
ENST00000480040.5:n.113G>A
ENST00000496501.5:n.912G>A
NM_144650.2:c.1038G>A	NP_653251.2:p.Lys346=
NM_144650.3:c.1038G>A MANE Select	NP_653251.2:p.Lys346=