Canonical Allele Identifier: CA108819321

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706644G>A , CM000666.2:g.158706644G>A	GRCh38
NC_000004.11:g.159627796G>A , CM000666.1:g.159627796G>A	GRCh37
NC_000004.10:g.159847246G>A	NCBI36
NG_007078.2:g.39303G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1484G>A MANE Select	NP_004444.2:p.Arg495Gln
ENST00000511912.6:c.1484G>A MANE Select	ENSP00000426638.1:p.Arg495Gln
NM_001281737.1:c.1343G>A	NP_001268666.1:p.Arg448Gln
NM_001281737.2:c.1343G>A	NP_001268666.1:p.Arg448Gln
NM_001281738.1:c.1301G>A	NP_001268667.1:p.Arg434Gln
NM_004453.3:c.1484G>A	NP_004444.2:p.Arg495Gln
ENST00000307738.5:c.1343G>A	ENSP00000303552.5:p.Arg448Gln
ENST00000506422.1:n.454G>A
ENST00000511912.5:c.1484G>A	ENSP00000426638.1:p.Arg495Gln
ENST00000681978.1:n.3020G>A
ENST00000682178.1:n.2516G>A
ENST00000682345.1:c.*1184G>A	ENSP00000508122.1:n.*1184G>A
ENST00000682452.1:n.1815G>A
ENST00000682456.1:c.1343G>A	ENSP00000508240.1:p.Arg448Gln
ENST00000682566.1:n.2267G>A
ENST00000682613.1:n.1796G>A
ENST00000682734.1:c.311G>A	ENSP00000507860.1:p.Arg104Gln
ENST00000682820.1:n.1521G>A
ENST00000683004.1:c.*1177G>A	ENSP00000506936.1:n.*1177G>A
ENST00000683079.1:c.*909G>A	ENSP00000507296.1:n.*909G>A
ENST00000683081.1:c.*1321G>A	ENSP00000507722.1:n.*1321G>A
ENST00000683181.1:n.763G>A
ENST00000683209.1:n.3810G>A
ENST00000683305.1:c.1301G>A	ENSP00000508043.1:p.Arg434Gln
ENST00000683448.1:c.*404G>A	ENSP00000506931.1:n.*404G>A
ENST00000683478.1:c.*835G>A	ENSP00000507793.1:n.*835G>A
ENST00000683483.1:c.1340G>A	ENSP00000507719.1:p.Arg447Gln
ENST00000683622.1:n.1198G>A
ENST00000683751.1:c.989G>A	ENSP00000506944.1:p.Arg330Gln
ENST00000684036.1:c.1301G>A	ENSP00000507276.1:p.Arg434Gln
ENST00000684129.1:c.311G>A	ENSP00000507174.1:p.Arg104Gln
ENST00000684209.1:n.1859G>A
ENST00000684296.1:c.*404G>A	ENSP00000507740.1:n.*404G>A
ENST00000684505.1:c.1433G>A	ENSP00000508237.1:p.Arg478Gln
ENST00000684552.1:c.*2903G>A	ENSP00000506899.1:n.*2903G>A
ENST00000684611.1:n.3212G>A
ENST00000684622.1:c.1484G>A	ENSP00000507546.1:p.Arg495Gln
ENST00000684627.1:c.1301G>A	ENSP00000507471.1:p.Arg434Gln
ENST00000684641.1:c.1199G>A	ENSP00000507642.1:p.Arg400Gln
ENST00000684675.1:c.*331G>A	ENSP00000506934.1:n.*331G>A
ENST00000684749.1:n.1553G>A
XM_024453935.1:c.1301G>A	XP_024309703.1:p.Arg434Gln