Canonical Allele Identifier: CA358564492

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706302G>C , CM000666.2:g.158706302G>C	GRCh38
NC_000004.11:g.159627454G>C , CM000666.1:g.159627454G>C	GRCh37
NC_000004.10:g.159846904G>C	NCBI36
NG_007078.2:g.38961G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1399G>C MANE Select	NP_004444.2:p.Gly467Arg
ENST00000511912.6:c.1399G>C MANE Select	ENSP00000426638.1:p.Gly467Arg
NM_001281737.1:c.1258G>C	NP_001268666.1:p.Gly420Arg
NM_001281737.2:c.1258G>C	NP_001268666.1:p.Gly420Arg
NM_001281738.1:c.1216G>C	NP_001268667.1:p.Gly406Arg
NM_004453.3:c.1399G>C	NP_004444.2:p.Gly467Arg
ENST00000307738.5:c.1258G>C	ENSP00000303552.5:p.Gly420Arg
ENST00000506422.1:n.369G>C
ENST00000511912.5:c.1399G>C	ENSP00000426638.1:p.Gly467Arg
ENST00000681978.1:n.2935G>C
ENST00000682178.1:n.2431G>C
ENST00000682345.1:c.*1099G>C	ENSP00000508122.1:n.*1099G>C
ENST00000682452.1:n.1730G>C
ENST00000682456.1:c.1258G>C	ENSP00000508240.1:p.Gly420Arg
ENST00000682566.1:n.2182G>C
ENST00000682613.1:n.1711G>C
ENST00000682734.1:c.226G>C	ENSP00000507860.1:p.Gly76Arg
ENST00000682820.1:n.1436G>C
ENST00000683004.1:c.*1092G>C	ENSP00000506936.1:n.*1092G>C
ENST00000683079.1:c.*824G>C	ENSP00000507296.1:n.*824G>C
ENST00000683081.1:c.*1236G>C	ENSP00000507722.1:n.*1236G>C
ENST00000683181.1:n.678G>C
ENST00000683209.1:n.3725G>C
ENST00000683305.1:c.1216G>C	ENSP00000508043.1:p.Gly406Arg
ENST00000683448.1:c.*319G>C	ENSP00000506931.1:n.*319G>C
ENST00000683478.1:c.*750G>C	ENSP00000507793.1:n.*750G>C
ENST00000683483.1:c.1255G>C	ENSP00000507719.1:p.Gly419Arg
ENST00000683622.1:n.1113G>C
ENST00000683751.1:c.904G>C	ENSP00000506944.1:p.Gly302Arg
ENST00000684036.1:c.1216G>C	ENSP00000507276.1:p.Gly406Arg
ENST00000684129.1:c.226G>C	ENSP00000507174.1:p.Gly76Arg
ENST00000684209.1:n.1774G>C
ENST00000684296.1:c.*319G>C	ENSP00000507740.1:n.*319G>C
ENST00000684505.1:c.1348G>C	ENSP00000508237.1:p.Gly450Arg
ENST00000684552.1:c.*2818G>C	ENSP00000506899.1:n.*2818G>C
ENST00000684611.1:n.3127G>C
ENST00000684622.1:c.1399G>C	ENSP00000507546.1:p.Gly467Arg
ENST00000684627.1:c.1216G>C	ENSP00000507471.1:p.Gly406Arg
ENST00000684641.1:c.1114G>C	ENSP00000507642.1:p.Gly372Arg
ENST00000684675.1:c.*246G>C	ENSP00000506934.1:n.*246G>C
ENST00000684749.1:n.1468G>C
XM_024453935.1:c.1216G>C	XP_024309703.1:p.Gly406Arg