Canonical Allele Identifier: CA108819444

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706835C>T , CM000666.2:g.158706835C>T	GRCh38
NC_000004.11:g.159627987C>T , CM000666.1:g.159627987C>T	GRCh37
NC_000004.10:g.159847437C>T	NCBI36
NG_007078.2:g.39494C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1675C>T MANE Select	NP_004444.2:p.Arg559Ter
ENST00000511912.6:c.1675C>T MANE Select	ENSP00000426638.1:p.Arg559Ter
NM_001281737.1:c.1534C>T	NP_001268666.1:p.Arg512Ter
NM_001281737.2:c.1534C>T	NP_001268666.1:p.Arg512Ter
NM_001281738.1:c.1492C>T	NP_001268667.1:p.Arg498Ter
NM_004453.3:c.1675C>T	NP_004444.2:p.Arg559Ter
ENST00000307738.5:c.1534C>T	ENSP00000303552.5:p.Arg512Ter
ENST00000506422.1:n.645C>T
ENST00000511912.5:c.1675C>T	ENSP00000426638.1:p.Arg559Ter
ENST00000681978.1:n.3211C>T
ENST00000682178.1:n.2707C>T
ENST00000682345.1:c.*1375C>T	ENSP00000508122.1:n.*1375C>T
ENST00000682452.1:n.2006C>T
ENST00000682456.1:c.1534C>T	ENSP00000508240.1:p.Arg512Ter
ENST00000682566.1:n.2458C>T
ENST00000682613.1:n.1987C>T
ENST00000682734.1:c.502C>T	ENSP00000507860.1:p.Arg168Ter
ENST00000682820.1:n.1712C>T
ENST00000683004.1:c.*1368C>T	ENSP00000506936.1:n.*1368C>T
ENST00000683079.1:c.*1100C>T	ENSP00000507296.1:n.*1100C>T
ENST00000683081.1:c.*1512C>T	ENSP00000507722.1:n.*1512C>T
ENST00000683181.1:n.954C>T
ENST00000683209.1:n.4001C>T
ENST00000683305.1:c.1492C>T	ENSP00000508043.1:p.Arg498Ter
ENST00000683448.1:c.*595C>T	ENSP00000506931.1:n.*595C>T
ENST00000683478.1:c.*1026C>T	ENSP00000507793.1:n.*1026C>T
ENST00000683483.1:c.1531C>T	ENSP00000507719.1:p.Arg511Ter
ENST00000683622.1:n.1389C>T
ENST00000683751.1:c.1180C>T	ENSP00000506944.1:p.Arg394Ter
ENST00000684036.1:c.1492C>T	ENSP00000507276.1:p.Arg498Ter
ENST00000684129.1:c.502C>T	ENSP00000507174.1:p.Arg168Ter
ENST00000684209.1:n.2050C>T
ENST00000684296.1:c.*595C>T	ENSP00000507740.1:n.*595C>T
ENST00000684505.1:c.1624C>T	ENSP00000508237.1:p.Arg542Ter
ENST00000684552.1:c.*3094C>T	ENSP00000506899.1:n.*3094C>T
ENST00000684611.1:n.3403C>T
ENST00000684622.1:c.1675C>T	ENSP00000507546.1:p.Arg559Ter
ENST00000684627.1:c.1492C>T	ENSP00000507471.1:p.Arg498Ter
ENST00000684641.1:c.1390C>T	ENSP00000507642.1:p.Arg464Ter
ENST00000684675.1:c.*522C>T	ENSP00000506934.1:n.*522C>T
ENST00000684749.1:n.1744C>T
XM_024453935.1:c.1492C>T	XP_024309703.1:p.Arg498Ter