Canonical Allele Identifier: CA3122718
Community Standard Title: NM_004453.4(ETFDH):c.1763A>G (p.His588Arg)
Gene: ETFDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.158708436A>G , CM000666.2:g.158708436A>G GRCh38
NC_000004.11:g.159629588A>G , CM000666.1:g.159629588A>G GRCh37
NC_000004.10:g.159849038A>G NCBI36
NG_007078.2:g.41095A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004453.4:c.1763A>G MANE Select NP_004444.2:p.His588Arg
ENST00000511912.6:c.1763A>G MANE Select ENSP00000426638.1:p.His588Arg
NM_001281737.1:c.1622A>G NP_001268666.1:p.His541Arg
NM_001281737.2:c.1622A>G NP_001268666.1:p.His541Arg
NM_001281738.1:c.1580A>G NP_001268667.1:p.His527Arg
NM_004453.3:c.1763A>G NP_004444.2:p.His588Arg
ENST00000307738.5:c.1622A>G ENSP00000303552.5:p.His541Arg
ENST00000506422.1:n.733A>G
ENST00000511912.5:c.1763A>G ENSP00000426638.1:p.His588Arg
ENST00000681978.1:n.3299A>G
ENST00000682178.1:n.2795A>G
ENST00000682345.1:c.*1463A>G ENSP00000508122.1:n.*1463A>G
ENST00000682452.1:n.2094A>G
ENST00000682456.1:c.1622A>G ENSP00000508240.1:p.His541Arg
ENST00000682566.1:n.2546A>G
ENST00000682613.1:n.2075A>G
ENST00000682734.1:c.590A>G ENSP00000507860.1:p.His197Arg
ENST00000682820.1:n.1800A>G
ENST00000683004.1:c.*1456A>G ENSP00000506936.1:n.*1456A>G
ENST00000683079.1:c.*1188A>G ENSP00000507296.1:n.*1188A>G
ENST00000683081.1:c.*1600A>G ENSP00000507722.1:n.*1600A>G
ENST00000683181.1:n.1042A>G
ENST00000683209.1:n.4089A>G
ENST00000683305.1:c.1580A>G ENSP00000508043.1:p.His527Arg
ENST00000683448.1:c.*683A>G ENSP00000506931.1:n.*683A>G
ENST00000683478.1:c.*1114A>G ENSP00000507793.1:n.*1114A>G
ENST00000683483.1:c.1619A>G ENSP00000507719.1:p.His540Arg
ENST00000683622.1:n.2990A>G
ENST00000683751.1:c.1268A>G ENSP00000506944.1:p.His423Arg
ENST00000684036.1:c.1580A>G ENSP00000507276.1:p.His527Arg
ENST00000684129.1:c.590A>G ENSP00000507174.1:p.His197Arg
ENST00000684209.1:n.2138A>G
ENST00000684296.1:c.*683A>G ENSP00000507740.1:n.*683A>G
ENST00000684505.1:c.1712A>G ENSP00000508237.1:p.His571Arg
ENST00000684552.1:c.*3182A>G ENSP00000506899.1:n.*3182A>G
ENST00000684611.1:n.3491A>G
ENST00000684622.1:c.*123A>G ENSP00000507546.1:n.*123A>G
ENST00000684627.1:c.1580A>G ENSP00000507471.1:p.His527Arg
ENST00000684641.1:c.1478A>G ENSP00000507642.1:p.His493Arg
ENST00000684675.1:c.*610A>G ENSP00000506934.1:n.*610A>G
ENST00000684749.1:n.1832A>G
XM_024453935.1:c.1580A>G XP_024309703.1:p.His527Arg