Canonical Allele Identifier: CA358566351

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708372G>A , CM000666.2:g.158708372G>A	GRCh38
NC_000004.11:g.159629524G>A , CM000666.1:g.159629524G>A	GRCh37
NC_000004.10:g.159848974G>A	NCBI36
NG_007078.2:g.41031G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1699G>A MANE Select	NP_004444.2:p.Glu567Lys
ENST00000511912.6:c.1699G>A MANE Select	ENSP00000426638.1:p.Glu567Lys
NM_001281737.1:c.1558G>A	NP_001268666.1:p.Glu520Lys
NM_001281737.2:c.1558G>A	NP_001268666.1:p.Glu520Lys
NM_001281738.1:c.1516G>A	NP_001268667.1:p.Glu506Lys
NM_004453.3:c.1699G>A	NP_004444.2:p.Glu567Lys
ENST00000307738.5:c.1558G>A	ENSP00000303552.5:p.Glu520Lys
ENST00000506422.1:n.669G>A
ENST00000511912.5:c.1699G>A	ENSP00000426638.1:p.Glu567Lys
ENST00000681978.1:n.3235G>A
ENST00000682178.1:n.2731G>A
ENST00000682345.1:c.*1399G>A	ENSP00000508122.1:n.*1399G>A
ENST00000682452.1:n.2030G>A
ENST00000682456.1:c.1558G>A	ENSP00000508240.1:p.Glu520Lys
ENST00000682566.1:n.2482G>A
ENST00000682613.1:n.2011G>A
ENST00000682734.1:c.526G>A	ENSP00000507860.1:p.Glu176Lys
ENST00000682820.1:n.1736G>A
ENST00000683004.1:c.*1392G>A	ENSP00000506936.1:n.*1392G>A
ENST00000683079.1:c.*1124G>A	ENSP00000507296.1:n.*1124G>A
ENST00000683081.1:c.*1536G>A	ENSP00000507722.1:n.*1536G>A
ENST00000683181.1:n.978G>A
ENST00000683209.1:n.4025G>A
ENST00000683305.1:c.1516G>A	ENSP00000508043.1:p.Glu506Lys
ENST00000683448.1:c.*619G>A	ENSP00000506931.1:n.*619G>A
ENST00000683478.1:c.*1050G>A	ENSP00000507793.1:n.*1050G>A
ENST00000683483.1:c.1555G>A	ENSP00000507719.1:p.Glu519Lys
ENST00000683622.1:n.2926G>A
ENST00000683751.1:c.1204G>A	ENSP00000506944.1:p.Glu402Lys
ENST00000684036.1:c.1516G>A	ENSP00000507276.1:p.Glu506Lys
ENST00000684129.1:c.526G>A	ENSP00000507174.1:p.Glu176Lys
ENST00000684209.1:n.2074G>A
ENST00000684296.1:c.*619G>A	ENSP00000507740.1:n.*619G>A
ENST00000684505.1:c.1648G>A	ENSP00000508237.1:p.Glu550Lys
ENST00000684552.1:c.*3118G>A	ENSP00000506899.1:n.*3118G>A
ENST00000684611.1:n.3427G>A
ENST00000684622.1:c.*59G>A	ENSP00000507546.1:n.*59G>A
ENST00000684627.1:c.1516G>A	ENSP00000507471.1:p.Glu506Lys
ENST00000684641.1:c.1414G>A	ENSP00000507642.1:p.Glu472Lys
ENST00000684675.1:c.*546G>A	ENSP00000506934.1:n.*546G>A
ENST00000684749.1:n.1768G>A
XM_024453935.1:c.1516G>A	XP_024309703.1:p.Glu506Lys