Canonical Allele Identifier: CA3122541

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158699063G>A , CM000666.2:g.158699063G>A	GRCh38
NC_000004.11:g.159620215G>A , CM000666.1:g.159620215G>A	GRCh37
NC_000004.10:g.159839665G>A	NCBI36
NG_007078.2:g.31722G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1049G>A MANE Select	NP_004444.2:p.Arg350Gln
ENST00000511912.6:c.1049G>A MANE Select	ENSP00000426638.1:p.Arg350Gln
NM_001281737.1:c.908G>A	NP_001268666.1:p.Arg303Gln
NM_001281737.2:c.908G>A	NP_001268666.1:p.Arg303Gln
NM_001281738.1:c.866G>A	NP_001268667.1:p.Arg289Gln
NM_004453.3:c.1049G>A	NP_004444.2:p.Arg350Gln
ENST00000307738.5:c.908G>A	ENSP00000303552.5:p.Arg303Gln
ENST00000506422.1:n.87-4360G>A
ENST00000511912.5:c.1049G>A	ENSP00000426638.1:p.Arg350Gln
ENST00000681978.1:n.2585G>A
ENST00000682178.1:n.2081G>A
ENST00000682345.1:c.*749G>A	ENSP00000508122.1:n.*749G>A
ENST00000682452.1:n.1380G>A
ENST00000682456.1:c.908G>A	ENSP00000508240.1:p.Arg303Gln
ENST00000682566.1:n.1832G>A
ENST00000682613.1:n.1361G>A
ENST00000682734.1:c.-125G>A	ENSP00000507860.1:n.-125G>A
ENST00000682820.1:n.1086G>A
ENST00000683004.1:c.*809+1364G>A	ENSP00000506936.1:n.*809+1364G>A
ENST00000683079.1:c.*429G>A	ENSP00000507296.1:n.*429G>A
ENST00000683081.1:c.*886G>A	ENSP00000507722.1:n.*886G>A
ENST00000683181.1:n.283G>A
ENST00000683305.1:c.866G>A	ENSP00000508043.1:p.Arg289Gln
ENST00000683448.1:c.554G>A	ENSP00000506931.1:p.Arg185Gln
ENST00000683478.1:c.*400G>A	ENSP00000507793.1:n.*400G>A
ENST00000683483.1:c.972+1364G>A	ENSP00000507719.1:n.972+1364G>A
ENST00000683751.1:c.554G>A	ENSP00000506944.1:p.Arg185Gln
ENST00000684036.1:c.866G>A	ENSP00000507276.1:p.Arg289Gln
ENST00000684129.1:c.-170G>A	ENSP00000507174.1:n.-170G>A
ENST00000684209.1:n.1424G>A
ENST00000684296.1:c.1049G>A	ENSP00000507740.1:p.Arg350Gln
ENST00000684505.1:c.998G>A	ENSP00000508237.1:p.Arg333Gln
ENST00000684552.1:c.1049G>A	ENSP00000506899.1:p.Arg350Gln
ENST00000684611.1:n.2777G>A
ENST00000684622.1:c.1049G>A	ENSP00000507546.1:p.Arg350Gln
ENST00000684627.1:c.866G>A	ENSP00000507471.1:p.Arg289Gln
ENST00000684641.1:c.831+3420G>A	ENSP00000507642.1:n.831+3420G>A
ENST00000684675.1:c.1049G>A	ENSP00000506934.1:p.Arg350Gln
ENST00000684749.1:n.1118G>A
XM_024453935.1:c.866G>A	XP_024309703.1:p.Arg289Gln