Canonical Allele Identifier: CA371359972

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369089A>T (hg19) ; chr8:g.66456854A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456854A>T , CM000670.2:g.66456854A>T	GRCh38
NC_000008.10:g.67369089A>T , CM000670.1:g.67369089A>T	GRCh37
NC_000008.9:g.67531643A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1024A>T MANE Select	ENSP00000379865.3:p.Met342Leu
ENST00000648156.1:c.*243A>T	ENSP00000497007.1:n.*243A>T
ENST00000276576.11:c.*860A>T	ENSP00000276576.7:n.*860A>T
ENST00000396623.7:c.1024A>T	ENSP00000379865.3:p.Met342Leu
ENST00000415254.5:c.880A>T	ENSP00000407115.1:p.Met294Leu
ENST00000419955.5:c.*1033A>T	ENSP00000392040.1:n.*1033A>T
ENST00000424777.6:c.*461A>T	ENSP00000410883.2:n.*461A>T
ENST00000426810.5:c.*1209A>T	ENSP00000406905.1:n.*1209A>T
ENST00000480040.5:n.99A>T
ENST00000496501.5:n.898A>T
NM_144650.2:c.1024A>T	NP_653251.2:p.Met342Leu
NM_144650.3:c.1024A>T MANE Select	NP_653251.2:p.Met342Leu