Canonical Allele Identifier: CA371359992

Gene: ADHFE1

Linked Data

• MyVariant Identifiers: chr8:g.67369093A>C (hg19) ; chr8:g.66456858A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.66456858A>C , CM000670.2:g.66456858A>C	GRCh38
NC_000008.10:g.67369093A>C , CM000670.1:g.67369093A>C	GRCh37
NC_000008.9:g.67531647A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396623.8:c.1028A>C MANE Select	ENSP00000379865.3:p.Tyr343Ser
ENST00000648156.1:c.*247A>C	ENSP00000497007.1:n.*247A>C
ENST00000276576.11:c.*864A>C	ENSP00000276576.7:n.*864A>C
ENST00000396623.7:c.1028A>C	ENSP00000379865.3:p.Tyr343Ser
ENST00000415254.5:c.884A>C	ENSP00000407115.1:p.Tyr295Ser
ENST00000419955.5:c.*1037A>C	ENSP00000392040.1:n.*1037A>C
ENST00000424777.6:c.*465A>C	ENSP00000410883.2:n.*465A>C
ENST00000426810.5:c.*1213A>C	ENSP00000406905.1:n.*1213A>C
ENST00000480040.5:n.103A>C
ENST00000496501.5:n.902A>C
NM_144650.2:c.1028A>C	NP_653251.2:p.Tyr343Ser
NM_144650.3:c.1028A>C MANE Select	NP_653251.2:p.Tyr343Ser