Canonical Allele Identifier: CA4766891

Gene: ADHFE1

Linked Data

• dbSNP Id: rs767404832
• ExAC: 8:67369085 G / A
• gnomAD v2: 8-67369085-G-A
• gnomAD v4: 8-66456850-G-A
• MyVariant Identifiers: chr8:g.67369085G>A (hg19) ; chr8:g.66456850G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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