Canonical Allele Identifier: CA371359951

Gene: ADHFE1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1019T>C MANE Select	ENSP00000379865.3:p.Val340Ala
ENST00000648156.1:c.*238T>C	ENSP00000497007.1:n.*238T>C
ENST00000276576.11:c.*855T>C	ENSP00000276576.7:n.*855T>C
ENST00000396623.7:c.1019T>C	ENSP00000379865.3:p.Val340Ala
ENST00000415254.5:c.875T>C	ENSP00000407115.1:p.Val292Ala
ENST00000419955.5:c.*1028T>C	ENSP00000392040.1:n.*1028T>C
ENST00000424777.6:c.*456T>C	ENSP00000410883.2:n.*456T>C
ENST00000426810.5:c.*1204T>C	ENSP00000406905.1:n.*1204T>C
ENST00000480040.5:n.94T>C
ENST00000496501.5:n.893T>C
NM_144650.2:c.1019T>C	NP_653251.2:p.Val340Ala
NM_144650.3:c.1019T>C MANE Select	NP_653251.2:p.Val340Ala