Canonical Allele Identifier: CA3122447

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158695618A>T , CM000666.2:g.158695618A>T	GRCh38
NC_000004.11:g.159616770A>T , CM000666.1:g.159616770A>T	GRCh37
NC_000004.10:g.159836220A>T	NCBI36
NG_007078.2:g.28277A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.806A>T MANE Select	NP_004444.2:p.Gln269Leu
ENST00000511912.6:c.806A>T MANE Select	ENSP00000426638.1:p.Gln269Leu
NM_001281737.1:c.665A>T	NP_001268666.1:p.Gln222Leu
NM_001281737.2:c.665A>T	NP_001268666.1:p.Gln222Leu
NM_001281738.1:c.623A>T	NP_001268667.1:p.Gln208Leu
NM_004453.3:c.806A>T	NP_004444.2:p.Gln269Leu
ENST00000307738.5:c.665A>T	ENSP00000303552.5:p.Gln222Leu
ENST00000506422.1:n.87-7805A>T
ENST00000507475.5:c.311A>T	ENSP00000422735.1:p.Gln104Leu
ENST00000507475.6:n.579A>T
ENST00000511912.5:c.806A>T	ENSP00000426638.1:p.Gln269Leu
ENST00000681978.1:n.1055A>T
ENST00000682178.1:n.1838A>T
ENST00000682345.1:c.*506A>T	ENSP00000508122.1:n.*506A>T
ENST00000682452.1:n.1137A>T
ENST00000682456.1:c.806A>T	ENSP00000508240.1:p.Gln269Leu
ENST00000682566.1:n.302A>T
ENST00000682601.1:n.997A>T
ENST00000682613.1:n.1118A>T
ENST00000682734.1:c.-368A>T	ENSP00000507860.1:n.-368A>T
ENST00000682820.1:n.843A>T
ENST00000683004.1:c.*643A>T	ENSP00000506936.1:n.*643A>T
ENST00000683079.1:c.*186A>T	ENSP00000507296.1:n.*186A>T
ENST00000683081.1:c.*643A>T	ENSP00000507722.1:n.*643A>T
ENST00000683305.1:c.623A>T	ENSP00000508043.1:p.Gln208Leu
ENST00000683448.1:c.311A>T	ENSP00000506931.1:p.Gln104Leu
ENST00000683478.1:c.*186A>T	ENSP00000507793.1:n.*186A>T
ENST00000683483.1:c.806A>T	ENSP00000507719.1:p.Gln269Leu
ENST00000683751.1:c.311A>T	ENSP00000506944.1:p.Gln104Leu
ENST00000684036.1:c.623A>T	ENSP00000507276.1:p.Gln208Leu
ENST00000684129.1:c.-413A>T	ENSP00000507174.1:n.-413A>T
ENST00000684209.1:n.1181A>T
ENST00000684296.1:c.806A>T	ENSP00000507740.1:p.Gln269Leu
ENST00000684505.1:c.755A>T	ENSP00000508237.1:p.Gln252Leu
ENST00000684552.1:c.806A>T	ENSP00000506899.1:p.Gln269Leu
ENST00000684611.1:n.2534A>T
ENST00000684622.1:c.806A>T	ENSP00000507546.1:p.Gln269Leu
ENST00000684627.1:c.623A>T	ENSP00000507471.1:p.Gln208Leu
ENST00000684641.1:c.806A>T	ENSP00000507642.1:p.Gln269Leu
ENST00000684675.1:c.806A>T	ENSP00000506934.1:p.Gln269Leu
ENST00000684749.1:n.875A>T
XM_024453935.1:c.623A>T	XP_024309703.1:p.Gln208Leu