Canonical Allele Identifier: CA358564559

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706331G>A , CM000666.2:g.158706331G>A	GRCh38
NC_000004.11:g.159627483G>A , CM000666.1:g.159627483G>A	GRCh37
NC_000004.10:g.159846933G>A	NCBI36
NG_007078.2:g.38990G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1428G>A MANE Select	NP_004444.2:p.Trp476Ter
ENST00000511912.6:c.1428G>A MANE Select	ENSP00000426638.1:p.Trp476Ter
NM_001281737.1:c.1287G>A	NP_001268666.1:p.Trp429Ter
NM_001281737.2:c.1287G>A	NP_001268666.1:p.Trp429Ter
NM_001281738.1:c.1245G>A	NP_001268667.1:p.Trp415Ter
NM_004453.3:c.1428G>A	NP_004444.2:p.Trp476Ter
ENST00000307738.5:c.1287G>A	ENSP00000303552.5:p.Trp429Ter
ENST00000506422.1:n.398G>A
ENST00000511912.5:c.1428G>A	ENSP00000426638.1:p.Trp476Ter
ENST00000681978.1:n.2964G>A
ENST00000682178.1:n.2460G>A
ENST00000682345.1:c.*1128G>A	ENSP00000508122.1:n.*1128G>A
ENST00000682452.1:n.1759G>A
ENST00000682456.1:c.1287G>A	ENSP00000508240.1:p.Trp429Ter
ENST00000682566.1:n.2211G>A
ENST00000682613.1:n.1740G>A
ENST00000682734.1:c.255G>A	ENSP00000507860.1:p.Trp85Ter
ENST00000682820.1:n.1465G>A
ENST00000683004.1:c.*1121G>A	ENSP00000506936.1:n.*1121G>A
ENST00000683079.1:c.*853G>A	ENSP00000507296.1:n.*853G>A
ENST00000683081.1:c.*1265G>A	ENSP00000507722.1:n.*1265G>A
ENST00000683181.1:n.707G>A
ENST00000683209.1:n.3754G>A
ENST00000683305.1:c.1245G>A	ENSP00000508043.1:p.Trp415Ter
ENST00000683448.1:c.*348G>A	ENSP00000506931.1:n.*348G>A
ENST00000683478.1:c.*779G>A	ENSP00000507793.1:n.*779G>A
ENST00000683483.1:c.1284G>A	ENSP00000507719.1:p.Trp428Ter
ENST00000683622.1:n.1142G>A
ENST00000683751.1:c.933G>A	ENSP00000506944.1:p.Trp311Ter
ENST00000684036.1:c.1245G>A	ENSP00000507276.1:p.Trp415Ter
ENST00000684129.1:c.255G>A	ENSP00000507174.1:p.Trp85Ter
ENST00000684209.1:n.1803G>A
ENST00000684296.1:c.*348G>A	ENSP00000507740.1:n.*348G>A
ENST00000684505.1:c.1377G>A	ENSP00000508237.1:p.Trp459Ter
ENST00000684552.1:c.*2847G>A	ENSP00000506899.1:n.*2847G>A
ENST00000684611.1:n.3156G>A
ENST00000684622.1:c.1428G>A	ENSP00000507546.1:p.Trp476Ter
ENST00000684627.1:c.1245G>A	ENSP00000507471.1:p.Trp415Ter
ENST00000684641.1:c.1143G>A	ENSP00000507642.1:p.Trp381Ter
ENST00000684675.1:c.*275G>A	ENSP00000506934.1:n.*275G>A
ENST00000684749.1:n.1497G>A
XM_024453935.1:c.1245G>A	XP_024309703.1:p.Trp415Ter