Canonical Allele Identifier: CA461157493

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369124A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456889A>C , CM000670.2:g.66456889A>C	GRCh38
NC_000008.10:g.67369124A>C , CM000670.1:g.67369124A>C	GRCh37
NC_000008.9:g.67531678A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396623.8:c.1059A>C MANE Select	ENSP00000379865.3:p.Pro353=
ENST00000648156.1:c.*278A>C	ENSP00000497007.1:n.*278A>C
ENST00000276576.11:c.*895A>C	ENSP00000276576.7:n.*895A>C
ENST00000396623.7:c.1059A>C	ENSP00000379865.3:p.Pro353=
ENST00000415254.5:c.915A>C	ENSP00000407115.1:p.Pro305=
ENST00000419955.5:c.*1068A>C	ENSP00000392040.1:n.*1068A>C
ENST00000424777.6:c.*496A>C	ENSP00000410883.2:n.*496A>C
ENST00000426810.5:c.*1244A>C	ENSP00000406905.1:n.*1244A>C
ENST00000480040.5:n.134A>C
ENST00000496501.5:n.933A>C
NM_144650.2:c.1059A>C	NP_653251.2:p.Pro353=
NM_144650.3:c.1059A>C MANE Select	NP_653251.2:p.Pro353=