Canonical Allele Identifier: CA461157468

Gene: ADHFE1

Linked Data

• COSMIC: COSM5522051 ; COSM5522052
• MyVariant Identifiers: chr8:g.67369088G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456853G>A , CM000670.2:g.66456853G>A	GRCh38
NC_000008.10:g.67369088G>A , CM000670.1:g.67369088G>A	GRCh37
NC_000008.9:g.67531642G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1023G>A MANE Select	ENSP00000379865.3:p.Lys341=
ENST00000648156.1:c.*242G>A	ENSP00000497007.1:n.*242G>A
ENST00000276576.11:c.*859G>A	ENSP00000276576.7:n.*859G>A
ENST00000396623.7:c.1023G>A	ENSP00000379865.3:p.Lys341=
ENST00000415254.5:c.879G>A	ENSP00000407115.1:p.Lys293=
ENST00000419955.5:c.*1032G>A	ENSP00000392040.1:n.*1032G>A
ENST00000424777.6:c.*460G>A	ENSP00000410883.2:n.*460G>A
ENST00000426810.5:c.*1208G>A	ENSP00000406905.1:n.*1208G>A
ENST00000480040.5:n.98G>A
ENST00000496501.5:n.897G>A
NM_144650.2:c.1023G>A	NP_653251.2:p.Lys341=
NM_144650.3:c.1023G>A MANE Select	NP_653251.2:p.Lys341=