Canonical Allele Identifier: CA358564922
Community Standard Title: NM_004453.4(ETFDH):c.1587T>G (p.His529Gln)
Gene: ETFDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.158706747T>G , CM000666.2:g.158706747T>G GRCh38
NC_000004.11:g.159627899T>G , CM000666.1:g.159627899T>G GRCh37
NC_000004.10:g.159847349T>G NCBI36
NG_007078.2:g.39406T>G

Transcript Alleles

HGVS Amino-acid Change
NM_004453.4:c.1587T>G MANE Select NP_004444.2:p.His529Gln
ENST00000511912.6:c.1587T>G MANE Select ENSP00000426638.1:p.His529Gln
NM_001281737.1:c.1446T>G NP_001268666.1:p.His482Gln
NM_001281737.2:c.1446T>G NP_001268666.1:p.His482Gln
NM_001281738.1:c.1404T>G NP_001268667.1:p.His468Gln
NM_004453.3:c.1587T>G NP_004444.2:p.His529Gln
ENST00000307738.5:c.1446T>G ENSP00000303552.5:p.His482Gln
ENST00000506422.1:n.557T>G
ENST00000511912.5:c.1587T>G ENSP00000426638.1:p.His529Gln
ENST00000681978.1:n.3123T>G
ENST00000682178.1:n.2619T>G
ENST00000682345.1:c.*1287T>G ENSP00000508122.1:n.*1287T>G
ENST00000682452.1:n.1918T>G
ENST00000682456.1:c.1446T>G ENSP00000508240.1:p.His482Gln
ENST00000682566.1:n.2370T>G
ENST00000682613.1:n.1899T>G
ENST00000682734.1:c.414T>G ENSP00000507860.1:p.His138Gln
ENST00000682820.1:n.1624T>G
ENST00000683004.1:c.*1280T>G ENSP00000506936.1:n.*1280T>G
ENST00000683079.1:c.*1012T>G ENSP00000507296.1:n.*1012T>G
ENST00000683081.1:c.*1424T>G ENSP00000507722.1:n.*1424T>G
ENST00000683181.1:n.866T>G
ENST00000683209.1:n.3913T>G
ENST00000683305.1:c.1404T>G ENSP00000508043.1:p.His468Gln
ENST00000683448.1:c.*507T>G ENSP00000506931.1:n.*507T>G
ENST00000683478.1:c.*938T>G ENSP00000507793.1:n.*938T>G
ENST00000683483.1:c.1443T>G ENSP00000507719.1:p.His481Gln
ENST00000683622.1:n.1301T>G
ENST00000683751.1:c.1092T>G ENSP00000506944.1:p.His364Gln
ENST00000684036.1:c.1404T>G ENSP00000507276.1:p.His468Gln
ENST00000684129.1:c.414T>G ENSP00000507174.1:p.His138Gln
ENST00000684209.1:n.1962T>G
ENST00000684296.1:c.*507T>G ENSP00000507740.1:n.*507T>G
ENST00000684505.1:c.1536T>G ENSP00000508237.1:p.His512Gln
ENST00000684552.1:c.*3006T>G ENSP00000506899.1:n.*3006T>G
ENST00000684611.1:n.3315T>G
ENST00000684622.1:c.1587T>G ENSP00000507546.1:p.His529Gln
ENST00000684627.1:c.1404T>G ENSP00000507471.1:p.His468Gln
ENST00000684641.1:c.1302T>G ENSP00000507642.1:p.His434Gln
ENST00000684675.1:c.*434T>G ENSP00000506934.1:n.*434T>G
ENST00000684749.1:n.1656T>G
XM_024453935.1:c.1404T>G XP_024309703.1:p.His468Gln