Canonical Allele Identifier: CA371359958

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369086A>T (hg19) ; chr8:g.66456851A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456851A>T , CM000670.2:g.66456851A>T	GRCh38
NC_000008.10:g.67369086A>T , CM000670.1:g.67369086A>T	GRCh37
NC_000008.9:g.67531640A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1021A>T MANE Select	ENSP00000379865.3:p.Lys341Ter
ENST00000648156.1:c.*240A>T	ENSP00000497007.1:n.*240A>T
ENST00000276576.11:c.*857A>T	ENSP00000276576.7:n.*857A>T
ENST00000396623.7:c.1021A>T	ENSP00000379865.3:p.Lys341Ter
ENST00000415254.5:c.877A>T	ENSP00000407115.1:p.Lys293Ter
ENST00000419955.5:c.*1030A>T	ENSP00000392040.1:n.*1030A>T
ENST00000424777.6:c.*458A>T	ENSP00000410883.2:n.*458A>T
ENST00000426810.5:c.*1206A>T	ENSP00000406905.1:n.*1206A>T
ENST00000480040.5:n.96A>T
ENST00000496501.5:n.895A>T
NM_144650.2:c.1021A>T	NP_653251.2:p.Lys341Ter
NM_144650.3:c.1021A>T MANE Select	NP_653251.2:p.Lys341Ter