Canonical Allele Identifier: CA358560958

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158695626G>C , CM000666.2:g.158695626G>C	GRCh38
NC_000004.11:g.159616778G>C , CM000666.1:g.159616778G>C	GRCh37
NC_000004.10:g.159836228G>C	NCBI36
NG_007078.2:g.28285G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.814G>C MANE Select	NP_004444.2:p.Gly272Arg
ENST00000511912.6:c.814G>C MANE Select	ENSP00000426638.1:p.Gly272Arg
NM_001281737.1:c.673G>C	NP_001268666.1:p.Gly225Arg
NM_001281737.2:c.673G>C	NP_001268666.1:p.Gly225Arg
NM_001281738.1:c.631G>C	NP_001268667.1:p.Gly211Arg
NM_004453.3:c.814G>C	NP_004444.2:p.Gly272Arg
ENST00000307738.5:c.673G>C	ENSP00000303552.5:p.Gly225Arg
ENST00000506422.1:n.87-7797G>C
ENST00000507475.5:c.319G>C	ENSP00000422735.1:p.Gly107Arg
ENST00000507475.6:n.587G>C
ENST00000511912.5:c.814G>C	ENSP00000426638.1:p.Gly272Arg
ENST00000681978.1:n.1063G>C
ENST00000682178.1:n.1846G>C
ENST00000682345.1:c.*514G>C	ENSP00000508122.1:n.*514G>C
ENST00000682452.1:n.1145G>C
ENST00000682456.1:c.814G>C	ENSP00000508240.1:p.Gly272Arg
ENST00000682566.1:n.310G>C
ENST00000682601.1:n.1005G>C
ENST00000682613.1:n.1126G>C
ENST00000682734.1:c.-360G>C	ENSP00000507860.1:n.-360G>C
ENST00000682820.1:n.851G>C
ENST00000683004.1:c.*651G>C	ENSP00000506936.1:n.*651G>C
ENST00000683079.1:c.*194G>C	ENSP00000507296.1:n.*194G>C
ENST00000683081.1:c.*651G>C	ENSP00000507722.1:n.*651G>C
ENST00000683305.1:c.631G>C	ENSP00000508043.1:p.Gly211Arg
ENST00000683448.1:c.319G>C	ENSP00000506931.1:p.Gly107Arg
ENST00000683478.1:c.*194G>C	ENSP00000507793.1:n.*194G>C
ENST00000683483.1:c.814G>C	ENSP00000507719.1:p.Gly272Arg
ENST00000683751.1:c.319G>C	ENSP00000506944.1:p.Gly107Arg
ENST00000684036.1:c.631G>C	ENSP00000507276.1:p.Gly211Arg
ENST00000684129.1:c.-405G>C	ENSP00000507174.1:n.-405G>C
ENST00000684209.1:n.1189G>C
ENST00000684296.1:c.814G>C	ENSP00000507740.1:p.Gly272Arg
ENST00000684505.1:c.763G>C	ENSP00000508237.1:p.Gly255Arg
ENST00000684552.1:c.814G>C	ENSP00000506899.1:p.Gly272Arg
ENST00000684611.1:n.2542G>C
ENST00000684622.1:c.814G>C	ENSP00000507546.1:p.Gly272Arg
ENST00000684627.1:c.631G>C	ENSP00000507471.1:p.Gly211Arg
ENST00000684641.1:c.814G>C	ENSP00000507642.1:p.Gly272Arg
ENST00000684675.1:c.814G>C	ENSP00000506934.1:p.Gly272Arg
ENST00000684749.1:n.883G>C
XM_024453935.1:c.631G>C	XP_024309703.1:p.Gly211Arg