Canonical Allele Identifier: CA3122701

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708361C>G , CM000666.2:g.158708361C>G	GRCh38
NC_000004.11:g.159629513C>G , CM000666.1:g.159629513C>G	GRCh37
NC_000004.10:g.159848963C>G	NCBI36
NG_007078.2:g.41020C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1691-3C>G MANE Select	NP_004444.2:n.1691-3C>G
ENST00000511912.6:c.1691-3C>G MANE Select	ENSP00000426638.1:n.1691-3C>G
NM_001281737.1:c.1550-3C>G	NP_001268666.1:n.1550-3C>G
NM_001281737.2:c.1550-3C>G	NP_001268666.1:n.1550-3C>G
NM_001281738.1:c.1508-3C>G	NP_001268667.1:n.1508-3C>G
NM_004453.3:c.1691-3C>G	NP_004444.2:n.1691-3C>G
ENST00000307738.5:c.1550-3C>G	ENSP00000303552.5:n.1550-3C>G
ENST00000506422.1:n.661-3C>G
ENST00000511912.5:c.1691-3C>G	ENSP00000426638.1:n.1691-3C>G
ENST00000681978.1:n.3227-3C>G
ENST00000682178.1:n.2723-3C>G
ENST00000682345.1:c.*1391-3C>G	ENSP00000508122.1:n.*1391-3C>G
ENST00000682452.1:n.2022-3C>G
ENST00000682456.1:c.1550-3C>G	ENSP00000508240.1:n.1550-3C>G
ENST00000682566.1:n.2474-3C>G
ENST00000682613.1:n.2003-3C>G
ENST00000682734.1:c.518-3C>G	ENSP00000507860.1:n.518-3C>G
ENST00000682820.1:n.1728-3C>G
ENST00000683004.1:c.*1384-3C>G	ENSP00000506936.1:n.*1384-3C>G
ENST00000683079.1:c.*1116-3C>G	ENSP00000507296.1:n.*1116-3C>G
ENST00000683081.1:c.*1528-3C>G	ENSP00000507722.1:n.*1528-3C>G
ENST00000683181.1:n.970-3C>G
ENST00000683209.1:n.4017-3C>G
ENST00000683305.1:c.1508-3C>G	ENSP00000508043.1:n.1508-3C>G
ENST00000683448.1:c.*611-3C>G	ENSP00000506931.1:n.*611-3C>G
ENST00000683478.1:c.*1042-3C>G	ENSP00000507793.1:n.*1042-3C>G
ENST00000683483.1:c.1547-3C>G	ENSP00000507719.1:n.1547-3C>G
ENST00000683622.1:n.2915C>G
ENST00000683751.1:c.1196-3C>G	ENSP00000506944.1:n.1196-3C>G
ENST00000684036.1:c.1508-3C>G	ENSP00000507276.1:n.1508-3C>G
ENST00000684129.1:c.518-3C>G	ENSP00000507174.1:n.518-3C>G
ENST00000684209.1:n.2066-3C>G
ENST00000684296.1:c.*611-3C>G	ENSP00000507740.1:n.*611-3C>G
ENST00000684505.1:c.1640-3C>G	ENSP00000508237.1:n.1640-3C>G
ENST00000684552.1:c.*3110-3C>G	ENSP00000506899.1:n.*3110-3C>G
ENST00000684611.1:n.3419-3C>G
ENST00000684622.1:c.*51-3C>G	ENSP00000507546.1:n.*51-3C>G
ENST00000684627.1:c.1508-3C>G	ENSP00000507471.1:n.1508-3C>G
ENST00000684641.1:c.1406-3C>G	ENSP00000507642.1:n.1406-3C>G
ENST00000684675.1:c.*538-3C>G	ENSP00000506934.1:n.*538-3C>G
ENST00000684749.1:n.1760-3C>G
XM_024453935.1:c.1508-3C>G	XP_024309703.1:n.1508-3C>G