Canonical Allele Identifier: CA854446933

Gene: ADHFE1

Linked Data

• dbSNP Id: rs1285244060
• gnomAD v4: 8-66456974-C-T
• MyVariant Identifiers: chr8:g.67369209C>T (hg19) ; chr8:g.66456974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456974C>T , CM000670.2:g.66456974C>T	GRCh38
NC_000008.10:g.67369209C>T , CM000670.1:g.67369209C>T	GRCh37
NC_000008.9:g.67531763C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1065+79C>T MANE Select	ENSP00000379865.3:n.1065+79C>T
ENST00000648156.1:c.*284+79C>T	ENSP00000497007.1:n.*284+79C>T
ENST00000276576.11:c.*901+79C>T	ENSP00000276576.7:n.*901+79C>T
ENST00000396623.7:c.1065+79C>T	ENSP00000379865.3:n.1065+79C>T
ENST00000415254.5:c.921+79C>T	ENSP00000407115.1:n.921+79C>T
ENST00000419955.5:c.*1074+79C>T	ENSP00000392040.1:n.*1074+79C>T
ENST00000424777.6:c.*502+79C>T	ENSP00000410883.2:n.*502+79C>T
ENST00000426810.5:c.*1250+79C>T	ENSP00000406905.1:n.*1250+79C>T
ENST00000480040.5:n.140+79C>T
ENST00000496501.5:n.939+79C>T
NM_144650.2:c.1065+79C>T	NP_653251.2:n.1065+79C>T
NM_144650.3:c.1065+79C>T MANE Select	NP_653251.2:n.1065+79C>T