Canonical Allele Identifier: CA358564919
Community Standard Title: NM_004453.4(ETFDH):c.1586A>G (p.His529Arg)
Gene: ETFDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.158706746A>G , CM000666.2:g.158706746A>G GRCh38
NC_000004.11:g.159627898A>G , CM000666.1:g.159627898A>G GRCh37
NC_000004.10:g.159847348A>G NCBI36
NG_007078.2:g.39405A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004453.4:c.1586A>G MANE Select NP_004444.2:p.His529Arg
ENST00000511912.6:c.1586A>G MANE Select ENSP00000426638.1:p.His529Arg
NM_001281737.1:c.1445A>G NP_001268666.1:p.His482Arg
NM_001281737.2:c.1445A>G NP_001268666.1:p.His482Arg
NM_001281738.1:c.1403A>G NP_001268667.1:p.His468Arg
NM_004453.3:c.1586A>G NP_004444.2:p.His529Arg
ENST00000307738.5:c.1445A>G ENSP00000303552.5:p.His482Arg
ENST00000506422.1:n.556A>G
ENST00000511912.5:c.1586A>G ENSP00000426638.1:p.His529Arg
ENST00000681978.1:n.3122A>G
ENST00000682178.1:n.2618A>G
ENST00000682345.1:c.*1286A>G ENSP00000508122.1:n.*1286A>G
ENST00000682452.1:n.1917A>G
ENST00000682456.1:c.1445A>G ENSP00000508240.1:p.His482Arg
ENST00000682566.1:n.2369A>G
ENST00000682613.1:n.1898A>G
ENST00000682734.1:c.413A>G ENSP00000507860.1:p.His138Arg
ENST00000682820.1:n.1623A>G
ENST00000683004.1:c.*1279A>G ENSP00000506936.1:n.*1279A>G
ENST00000683079.1:c.*1011A>G ENSP00000507296.1:n.*1011A>G
ENST00000683081.1:c.*1423A>G ENSP00000507722.1:n.*1423A>G
ENST00000683181.1:n.865A>G
ENST00000683209.1:n.3912A>G
ENST00000683305.1:c.1403A>G ENSP00000508043.1:p.His468Arg
ENST00000683448.1:c.*506A>G ENSP00000506931.1:n.*506A>G
ENST00000683478.1:c.*937A>G ENSP00000507793.1:n.*937A>G
ENST00000683483.1:c.1442A>G ENSP00000507719.1:p.His481Arg
ENST00000683622.1:n.1300A>G
ENST00000683751.1:c.1091A>G ENSP00000506944.1:p.His364Arg
ENST00000684036.1:c.1403A>G ENSP00000507276.1:p.His468Arg
ENST00000684129.1:c.413A>G ENSP00000507174.1:p.His138Arg
ENST00000684209.1:n.1961A>G
ENST00000684296.1:c.*506A>G ENSP00000507740.1:n.*506A>G
ENST00000684505.1:c.1535A>G ENSP00000508237.1:p.His512Arg
ENST00000684552.1:c.*3005A>G ENSP00000506899.1:n.*3005A>G
ENST00000684611.1:n.3314A>G
ENST00000684622.1:c.1586A>G ENSP00000507546.1:p.His529Arg
ENST00000684627.1:c.1403A>G ENSP00000507471.1:p.His468Arg
ENST00000684641.1:c.1301A>G ENSP00000507642.1:p.His434Arg
ENST00000684675.1:c.*433A>G ENSP00000506934.1:n.*433A>G
ENST00000684749.1:n.1655A>G
XM_024453935.1:c.1403A>G XP_024309703.1:p.His468Arg