Canonical Allele Identifier: CA358559891

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158690346A>G , CM000666.2:g.158690346A>G	GRCh38
NC_000004.11:g.159611498A>G , CM000666.1:g.159611498A>G	GRCh37
NC_000004.10:g.159830948A>G	NCBI36
NG_007078.2:g.23005A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.607-2A>G MANE Select	NP_004444.2:n.607-2A>G
ENST00000511912.6:c.607-2A>G MANE Select	ENSP00000426638.1:n.607-2A>G
NM_001281737.1:c.466-2A>G	NP_001268666.1:n.466-2A>G
NM_001281737.2:c.466-2A>G	NP_001268666.1:n.466-2A>G
NM_001281738.1:c.424-2A>G	NP_001268667.1:n.424-2A>G
NM_004453.3:c.607-2A>G	NP_004444.2:n.607-2A>G
ENST00000307738.5:c.466-2A>G	ENSP00000303552.5:n.466-2A>G
ENST00000506422.1:n.87-13077A>G
ENST00000507475.5:c.112-2A>G	ENSP00000422735.1:n.112-2A>G
ENST00000507475.6:n.380-2A>G
ENST00000511912.5:c.607-2A>G	ENSP00000426638.1:n.607-2A>G
ENST00000681978.1:n.856-2A>G
ENST00000682178.1:n.1639-2A>G
ENST00000682345.1:c.*307-2A>G	ENSP00000508122.1:n.*307-2A>G
ENST00000682452.1:n.938-2A>G
ENST00000682456.1:c.607-2A>G	ENSP00000508240.1:n.607-2A>G
ENST00000682601.1:n.798-2A>G
ENST00000682734.1:c.-567-2A>G	ENSP00000507860.1:n.-567-2A>G
ENST00000682820.1:n.644-2A>G
ENST00000682910.1:n.914-2A>G
ENST00000683004.1:c.*444-2A>G	ENSP00000506936.1:n.*444-2A>G
ENST00000683079.1:c.488-2A>G	ENSP00000507296.1:n.488-2A>G
ENST00000683081.1:c.*444-2A>G	ENSP00000507722.1:n.*444-2A>G
ENST00000683305.1:c.424-2A>G	ENSP00000508043.1:n.424-2A>G
ENST00000683448.1:c.112-2A>G	ENSP00000506931.1:n.112-2A>G
ENST00000683478.1:c.488-2A>G	ENSP00000507793.1:n.488-2A>G
ENST00000683483.1:c.607-2A>G	ENSP00000507719.1:n.607-2A>G
ENST00000683750.1:n.730-2A>G
ENST00000683751.1:c.112-2A>G	ENSP00000506944.1:n.112-2A>G
ENST00000684036.1:c.424-2A>G	ENSP00000507276.1:n.424-2A>G
ENST00000684129.1:c.-612-2A>G	ENSP00000507174.1:n.-612-2A>G
ENST00000684209.1:n.847-2A>G
ENST00000684296.1:c.607-2A>G	ENSP00000507740.1:n.607-2A>G
ENST00000684505.1:c.556-2A>G	ENSP00000508237.1:n.556-2A>G
ENST00000684552.1:c.607-2A>G	ENSP00000506899.1:n.607-2A>G
ENST00000684611.1:n.2335-2A>G
ENST00000684622.1:c.607-2A>G	ENSP00000507546.1:n.607-2A>G
ENST00000684627.1:c.424-2A>G	ENSP00000507471.1:n.424-2A>G
ENST00000684641.1:c.607-2A>G	ENSP00000507642.1:n.607-2A>G
ENST00000684675.1:c.607-2A>G	ENSP00000506934.1:n.607-2A>G
ENST00000684749.1:n.676-2A>G
XM_024453935.1:c.424-2A>G	XP_024309703.1:n.424-2A>G