Canonical Allele Identifier: CA371359950

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369084T>G (hg19) ; chr8:g.66456849T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456849T>G , CM000670.2:g.66456849T>G	GRCh38
NC_000008.10:g.67369084T>G , CM000670.1:g.67369084T>G	GRCh37
NC_000008.9:g.67531638T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1019T>G MANE Select	ENSP00000379865.3:p.Val340Gly
ENST00000648156.1:c.*238T>G	ENSP00000497007.1:n.*238T>G
ENST00000276576.11:c.*855T>G	ENSP00000276576.7:n.*855T>G
ENST00000396623.7:c.1019T>G	ENSP00000379865.3:p.Val340Gly
ENST00000415254.5:c.875T>G	ENSP00000407115.1:p.Val292Gly
ENST00000419955.5:c.*1028T>G	ENSP00000392040.1:n.*1028T>G
ENST00000424777.6:c.*456T>G	ENSP00000410883.2:n.*456T>G
ENST00000426810.5:c.*1204T>G	ENSP00000406905.1:n.*1204T>G
ENST00000480040.5:n.94T>G
ENST00000496501.5:n.893T>G
NM_144650.2:c.1019T>G	NP_653251.2:p.Val340Gly
NM_144650.3:c.1019T>G MANE Select	NP_653251.2:p.Val340Gly