Canonical Allele Identifier: CA371360002

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369095A>C (hg19) ; chr8:g.66456860A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456860A>C , CM000670.2:g.66456860A>C	GRCh38
NC_000008.10:g.67369095A>C , CM000670.1:g.67369095A>C	GRCh37
NC_000008.9:g.67531649A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1030A>C MANE Select	ENSP00000379865.3:p.Lys344Gln
ENST00000648156.1:c.*249A>C	ENSP00000497007.1:n.*249A>C
ENST00000276576.11:c.*866A>C	ENSP00000276576.7:n.*866A>C
ENST00000396623.7:c.1030A>C	ENSP00000379865.3:p.Lys344Gln
ENST00000415254.5:c.886A>C	ENSP00000407115.1:p.Lys296Gln
ENST00000419955.5:c.*1039A>C	ENSP00000392040.1:n.*1039A>C
ENST00000424777.6:c.*467A>C	ENSP00000410883.2:n.*467A>C
ENST00000426810.5:c.*1215A>C	ENSP00000406905.1:n.*1215A>C
ENST00000480040.5:n.105A>C
ENST00000496501.5:n.904A>C
NM_144650.2:c.1030A>C	NP_653251.2:p.Lys344Gln
NM_144650.3:c.1030A>C MANE Select	NP_653251.2:p.Lys344Gln