Canonical Allele Identifier: CA358563929
Community Standard Title: NM_004453.4(ETFDH):c.1354A>G (p.Arg452Gly)
Gene: ETFDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.158706257A>G , CM000666.2:g.158706257A>G GRCh38
NC_000004.11:g.159627409A>G , CM000666.1:g.159627409A>G GRCh37
NC_000004.10:g.159846859A>G NCBI36
NG_007078.2:g.38916A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004453.4:c.1354A>G MANE Select NP_004444.2:p.Arg452Gly
ENST00000511912.6:c.1354A>G MANE Select ENSP00000426638.1:p.Arg452Gly
NM_001281737.1:c.1213A>G NP_001268666.1:p.Arg405Gly
NM_001281737.2:c.1213A>G NP_001268666.1:p.Arg405Gly
NM_001281738.1:c.1171A>G NP_001268667.1:p.Arg391Gly
NM_004453.3:c.1354A>G NP_004444.2:p.Arg452Gly
ENST00000307738.5:c.1213A>G ENSP00000303552.5:p.Arg405Gly
ENST00000506422.1:n.324A>G
ENST00000511912.5:c.1354A>G ENSP00000426638.1:p.Arg452Gly
ENST00000681978.1:n.2890A>G
ENST00000682178.1:n.2386A>G
ENST00000682345.1:c.*1054A>G ENSP00000508122.1:n.*1054A>G
ENST00000682452.1:n.1685A>G
ENST00000682456.1:c.1213A>G ENSP00000508240.1:p.Arg405Gly
ENST00000682566.1:n.2137A>G
ENST00000682613.1:n.1666A>G
ENST00000682734.1:c.181A>G ENSP00000507860.1:p.Arg61Gly
ENST00000682820.1:n.1391A>G
ENST00000683004.1:c.*1047A>G ENSP00000506936.1:n.*1047A>G
ENST00000683079.1:c.*779A>G ENSP00000507296.1:n.*779A>G
ENST00000683081.1:c.*1191A>G ENSP00000507722.1:n.*1191A>G
ENST00000683181.1:n.633A>G
ENST00000683209.1:n.3680A>G
ENST00000683305.1:c.1171A>G ENSP00000508043.1:p.Arg391Gly
ENST00000683448.1:c.*274A>G ENSP00000506931.1:n.*274A>G
ENST00000683478.1:c.*705A>G ENSP00000507793.1:n.*705A>G
ENST00000683483.1:c.1210A>G ENSP00000507719.1:p.Arg404Gly
ENST00000683622.1:n.1068A>G
ENST00000683751.1:c.859A>G ENSP00000506944.1:p.Arg287Gly
ENST00000684036.1:c.1171A>G ENSP00000507276.1:p.Arg391Gly
ENST00000684129.1:c.181A>G ENSP00000507174.1:p.Arg61Gly
ENST00000684209.1:n.1729A>G
ENST00000684296.1:c.*274A>G ENSP00000507740.1:n.*274A>G
ENST00000684505.1:c.1303A>G ENSP00000508237.1:p.Arg435Gly
ENST00000684552.1:c.*2773A>G ENSP00000506899.1:n.*2773A>G
ENST00000684611.1:n.3082A>G
ENST00000684622.1:c.1354A>G ENSP00000507546.1:p.Arg452Gly
ENST00000684627.1:c.1171A>G ENSP00000507471.1:p.Arg391Gly
ENST00000684641.1:c.1069A>G ENSP00000507642.1:p.Arg357Gly
ENST00000684675.1:c.*201A>G ENSP00000506934.1:n.*201A>G
ENST00000684749.1:n.1423A>G
XM_024453935.1:c.1171A>G XP_024309703.1:p.Arg391Gly