Canonical Allele Identifier: CA358566950

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708504G>A , CM000666.2:g.158708504G>A	GRCh38
NC_000004.11:g.159629656G>A , CM000666.1:g.159629656G>A	GRCh37
NC_000004.10:g.159849106G>A	NCBI36
NG_007078.2:g.41163G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1831G>A MANE Select	NP_004444.2:p.Gly611Arg
ENST00000511912.6:c.1831G>A MANE Select	ENSP00000426638.1:p.Gly611Arg
NM_001281737.1:c.1690G>A	NP_001268666.1:p.Gly564Arg
NM_001281737.2:c.1690G>A	NP_001268666.1:p.Gly564Arg
NM_001281738.1:c.1648G>A	NP_001268667.1:p.Gly550Arg
NM_004453.3:c.1831G>A	NP_004444.2:p.Gly611Arg
ENST00000307738.5:c.1690G>A	ENSP00000303552.5:p.Gly564Arg
ENST00000506422.1:n.801G>A
ENST00000511912.5:c.1831G>A	ENSP00000426638.1:p.Gly611Arg
ENST00000681978.1:n.3367G>A
ENST00000682178.1:n.2863G>A
ENST00000682345.1:c.*1531G>A	ENSP00000508122.1:n.*1531G>A
ENST00000682452.1:n.2162G>A
ENST00000682456.1:c.1690G>A	ENSP00000508240.1:p.Gly564Arg
ENST00000682566.1:n.2614G>A
ENST00000682613.1:n.2143G>A
ENST00000682734.1:c.658G>A	ENSP00000507860.1:p.Gly220Arg
ENST00000682820.1:n.1868G>A
ENST00000683004.1:c.*1524G>A	ENSP00000506936.1:n.*1524G>A
ENST00000683079.1:c.*1256G>A	ENSP00000507296.1:n.*1256G>A
ENST00000683081.1:c.*1668G>A	ENSP00000507722.1:n.*1668G>A
ENST00000683181.1:n.1110G>A
ENST00000683209.1:n.4157G>A
ENST00000683305.1:c.1648G>A	ENSP00000508043.1:p.Gly550Arg
ENST00000683448.1:c.*751G>A	ENSP00000506931.1:n.*751G>A
ENST00000683478.1:c.*1182G>A	ENSP00000507793.1:n.*1182G>A
ENST00000683483.1:c.1687G>A	ENSP00000507719.1:p.Gly563Arg
ENST00000683622.1:n.3058G>A
ENST00000683751.1:c.1336G>A	ENSP00000506944.1:p.Gly446Arg
ENST00000684036.1:c.1648G>A	ENSP00000507276.1:p.Gly550Arg
ENST00000684129.1:c.658G>A	ENSP00000507174.1:p.Gly220Arg
ENST00000684209.1:n.2206G>A
ENST00000684296.1:c.*751G>A	ENSP00000507740.1:n.*751G>A
ENST00000684505.1:c.1780G>A	ENSP00000508237.1:p.Gly594Arg
ENST00000684552.1:c.*3250G>A	ENSP00000506899.1:n.*3250G>A
ENST00000684611.1:n.3559G>A
ENST00000684627.1:c.1648G>A	ENSP00000507471.1:p.Gly550Arg
ENST00000684641.1:c.1546G>A	ENSP00000507642.1:p.Gly516Arg
ENST00000684675.1:c.*678G>A	ENSP00000506934.1:n.*678G>A
ENST00000684749.1:n.1900G>A
XM_024453935.1:c.1648G>A	XP_024309703.1:p.Gly550Arg