Canonical Allele Identifier: CA358561554

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158697643G>T , CM000666.2:g.158697643G>T	GRCh38
NC_000004.11:g.159618795G>T , CM000666.1:g.159618795G>T	GRCh37
NC_000004.10:g.159838245G>T	NCBI36
NG_007078.2:g.30302G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.916G>T MANE Select	NP_004444.2:p.Gly306Ter
ENST00000511912.6:c.916G>T MANE Select	ENSP00000426638.1:p.Gly306Ter
NM_001281737.1:c.775G>T	NP_001268666.1:p.Gly259Ter
NM_001281737.2:c.775G>T	NP_001268666.1:p.Gly259Ter
NM_001281738.1:c.733G>T	NP_001268667.1:p.Gly245Ter
NM_004453.3:c.916G>T	NP_004444.2:p.Gly306Ter
ENST00000307738.5:c.775G>T	ENSP00000303552.5:p.Gly259Ter
ENST00000506422.1:n.87-5780G>T
ENST00000507475.5:c.421G>T	ENSP00000422735.1:p.Gly141Ter
ENST00000507475.6:n.689G>T
ENST00000511912.5:c.916G>T	ENSP00000426638.1:p.Gly306Ter
ENST00000681978.1:n.1165G>T
ENST00000682178.1:n.1948G>T
ENST00000682345.1:c.*616G>T	ENSP00000508122.1:n.*616G>T
ENST00000682452.1:n.1247G>T
ENST00000682456.1:c.832-1344G>T	ENSP00000508240.1:n.832-1344G>T
ENST00000682566.1:n.412G>T
ENST00000682601.1:n.1107G>T
ENST00000682613.1:n.1228G>T
ENST00000682734.1:c.-258G>T	ENSP00000507860.1:n.-258G>T
ENST00000682820.1:n.953G>T
ENST00000683004.1:c.*753G>T	ENSP00000506936.1:n.*753G>T
ENST00000683079.1:c.*296G>T	ENSP00000507296.1:n.*296G>T
ENST00000683081.1:c.*753G>T	ENSP00000507722.1:n.*753G>T
ENST00000683305.1:c.733G>T	ENSP00000508043.1:p.Gly245Ter
ENST00000683448.1:c.421G>T	ENSP00000506931.1:p.Gly141Ter
ENST00000683478.1:c.*296G>T	ENSP00000507793.1:n.*296G>T
ENST00000683483.1:c.916G>T	ENSP00000507719.1:p.Gly306Ter
ENST00000683751.1:c.421G>T	ENSP00000506944.1:p.Gly141Ter
ENST00000684036.1:c.733G>T	ENSP00000507276.1:p.Gly245Ter
ENST00000684129.1:c.-303G>T	ENSP00000507174.1:n.-303G>T
ENST00000684209.1:n.1291G>T
ENST00000684296.1:c.916G>T	ENSP00000507740.1:p.Gly306Ter
ENST00000684505.1:c.865G>T	ENSP00000508237.1:p.Gly289Ter
ENST00000684552.1:c.916G>T	ENSP00000506899.1:p.Gly306Ter
ENST00000684611.1:n.2644G>T
ENST00000684622.1:c.916G>T	ENSP00000507546.1:p.Gly306Ter
ENST00000684627.1:c.733G>T	ENSP00000507471.1:p.Gly245Ter
ENST00000684641.1:c.831+2000G>T	ENSP00000507642.1:n.831+2000G>T
ENST00000684675.1:c.916G>T	ENSP00000506934.1:p.Gly306Ter
ENST00000684749.1:n.985G>T
XM_024453935.1:c.733G>T	XP_024309703.1:p.Gly245Ter