Canonical Allele Identifier: CA461157466

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369085G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456850G>C , CM000670.2:g.66456850G>C	GRCh38
NC_000008.10:g.67369085G>C , CM000670.1:g.67369085G>C	GRCh37
NC_000008.9:g.67531639G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1020G>C MANE Select	ENSP00000379865.3:p.Val340=
ENST00000648156.1:c.*239G>C	ENSP00000497007.1:n.*239G>C
ENST00000276576.11:c.*856G>C	ENSP00000276576.7:n.*856G>C
ENST00000396623.7:c.1020G>C	ENSP00000379865.3:p.Val340=
ENST00000415254.5:c.876G>C	ENSP00000407115.1:p.Val292=
ENST00000419955.5:c.*1029G>C	ENSP00000392040.1:n.*1029G>C
ENST00000424777.6:c.*457G>C	ENSP00000410883.2:n.*457G>C
ENST00000426810.5:c.*1205G>C	ENSP00000406905.1:n.*1205G>C
ENST00000480040.5:n.95G>C
ENST00000496501.5:n.894G>C
NM_144650.2:c.1020G>C	NP_653251.2:p.Val340=
NM_144650.3:c.1020G>C MANE Select	NP_653251.2:p.Val340=