Canonical Allele Identifier: CA358562315

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158699096A>G , CM000666.2:g.158699096A>G	GRCh38
NC_000004.11:g.159620248A>G , CM000666.1:g.159620248A>G	GRCh37
NC_000004.10:g.159839698A>G	NCBI36
NG_007078.2:g.31755A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1082A>G MANE Select	NP_004444.2:p.Tyr361Cys
ENST00000511912.6:c.1082A>G MANE Select	ENSP00000426638.1:p.Tyr361Cys
NM_001281737.1:c.941A>G	NP_001268666.1:p.Tyr314Cys
NM_001281737.2:c.941A>G	NP_001268666.1:p.Tyr314Cys
NM_001281738.1:c.899A>G	NP_001268667.1:p.Tyr300Cys
NM_004453.3:c.1082A>G	NP_004444.2:p.Tyr361Cys
ENST00000307738.5:c.941A>G	ENSP00000303552.5:p.Tyr314Cys
ENST00000506422.1:n.87-4327A>G
ENST00000511912.5:c.1082A>G	ENSP00000426638.1:p.Tyr361Cys
ENST00000681978.1:n.2618A>G
ENST00000682178.1:n.2114A>G
ENST00000682345.1:c.*782A>G	ENSP00000508122.1:n.*782A>G
ENST00000682452.1:n.1413A>G
ENST00000682456.1:c.941A>G	ENSP00000508240.1:p.Tyr314Cys
ENST00000682566.1:n.1865A>G
ENST00000682613.1:n.1394A>G
ENST00000682734.1:c.-92A>G	ENSP00000507860.1:n.-92A>G
ENST00000682820.1:n.1119A>G
ENST00000683004.1:c.*809+1397A>G	ENSP00000506936.1:n.*809+1397A>G
ENST00000683079.1:c.*462A>G	ENSP00000507296.1:n.*462A>G
ENST00000683081.1:c.*919A>G	ENSP00000507722.1:n.*919A>G
ENST00000683181.1:n.316A>G
ENST00000683305.1:c.899A>G	ENSP00000508043.1:p.Tyr300Cys
ENST00000683448.1:c.587A>G	ENSP00000506931.1:p.Tyr196Cys
ENST00000683478.1:c.*433A>G	ENSP00000507793.1:n.*433A>G
ENST00000683483.1:c.972+1397A>G	ENSP00000507719.1:n.972+1397A>G
ENST00000683751.1:c.587A>G	ENSP00000506944.1:p.Tyr196Cys
ENST00000684036.1:c.899A>G	ENSP00000507276.1:p.Tyr300Cys
ENST00000684129.1:c.-137A>G	ENSP00000507174.1:n.-137A>G
ENST00000684209.1:n.1457A>G
ENST00000684296.1:c.1082A>G	ENSP00000507740.1:p.Tyr361Cys
ENST00000684505.1:c.1031A>G	ENSP00000508237.1:p.Tyr344Cys
ENST00000684552.1:c.1082A>G	ENSP00000506899.1:p.Tyr361Cys
ENST00000684611.1:n.2810A>G
ENST00000684622.1:c.1082A>G	ENSP00000507546.1:p.Tyr361Cys
ENST00000684627.1:c.899A>G	ENSP00000507471.1:p.Tyr300Cys
ENST00000684641.1:c.831+3453A>G	ENSP00000507642.1:n.831+3453A>G
ENST00000684675.1:c.1082A>G	ENSP00000506934.1:p.Tyr361Cys
ENST00000684749.1:n.1151A>G
XM_024453935.1:c.899A>G	XP_024309703.1:p.Tyr300Cys