Canonical Allele Identifier: CA358563849

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706242G>T , CM000666.2:g.158706242G>T	GRCh38
NC_000004.11:g.159627394G>T , CM000666.1:g.159627394G>T	GRCh37
NC_000004.10:g.159846844G>T	NCBI36
NG_007078.2:g.38901G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1339G>T MANE Select	NP_004444.2:p.Glu447Ter
ENST00000511912.6:c.1339G>T MANE Select	ENSP00000426638.1:p.Glu447Ter
NM_001281737.1:c.1198G>T	NP_001268666.1:p.Glu400Ter
NM_001281737.2:c.1198G>T	NP_001268666.1:p.Glu400Ter
NM_001281738.1:c.1156G>T	NP_001268667.1:p.Glu386Ter
NM_004453.3:c.1339G>T	NP_004444.2:p.Glu447Ter
ENST00000307738.5:c.1198G>T	ENSP00000303552.5:p.Glu400Ter
ENST00000506422.1:n.309G>T
ENST00000511912.5:c.1339G>T	ENSP00000426638.1:p.Glu447Ter
ENST00000681978.1:n.2875G>T
ENST00000682178.1:n.2371G>T
ENST00000682345.1:c.*1039G>T	ENSP00000508122.1:n.*1039G>T
ENST00000682452.1:n.1670G>T
ENST00000682456.1:c.1198G>T	ENSP00000508240.1:p.Glu400Ter
ENST00000682566.1:n.2122G>T
ENST00000682613.1:n.1651G>T
ENST00000682734.1:c.166G>T	ENSP00000507860.1:p.Glu56Ter
ENST00000682820.1:n.1376G>T
ENST00000683004.1:c.*1032G>T	ENSP00000506936.1:n.*1032G>T
ENST00000683079.1:c.*764G>T	ENSP00000507296.1:n.*764G>T
ENST00000683081.1:c.*1176G>T	ENSP00000507722.1:n.*1176G>T
ENST00000683181.1:n.618G>T
ENST00000683209.1:n.3665G>T
ENST00000683305.1:c.1156G>T	ENSP00000508043.1:p.Glu386Ter
ENST00000683448.1:c.*259G>T	ENSP00000506931.1:n.*259G>T
ENST00000683478.1:c.*690G>T	ENSP00000507793.1:n.*690G>T
ENST00000683483.1:c.1195G>T	ENSP00000507719.1:p.Glu399Ter
ENST00000683622.1:n.1053G>T
ENST00000683751.1:c.844G>T	ENSP00000506944.1:p.Glu282Ter
ENST00000684036.1:c.1156G>T	ENSP00000507276.1:p.Glu386Ter
ENST00000684129.1:c.166G>T	ENSP00000507174.1:p.Glu56Ter
ENST00000684209.1:n.1714G>T
ENST00000684296.1:c.*259G>T	ENSP00000507740.1:n.*259G>T
ENST00000684505.1:c.1288G>T	ENSP00000508237.1:p.Glu430Ter
ENST00000684552.1:c.*2758G>T	ENSP00000506899.1:n.*2758G>T
ENST00000684611.1:n.3067G>T
ENST00000684622.1:c.1339G>T	ENSP00000507546.1:p.Glu447Ter
ENST00000684627.1:c.1156G>T	ENSP00000507471.1:p.Glu386Ter
ENST00000684641.1:c.1054G>T	ENSP00000507642.1:p.Glu352Ter
ENST00000684675.1:c.*186G>T	ENSP00000506934.1:n.*186G>T
ENST00000684749.1:n.1408G>T
XM_024453935.1:c.1156G>T	XP_024309703.1:p.Glu386Ter