Canonical Allele Identifier: CA358562295

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158699088G>T , CM000666.2:g.158699088G>T	GRCh38
NC_000004.11:g.159620240G>T , CM000666.1:g.159620240G>T	GRCh37
NC_000004.10:g.159839690G>T	NCBI36
NG_007078.2:g.31747G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1074G>T MANE Select	NP_004444.2:p.Arg358Ser
ENST00000511912.6:c.1074G>T MANE Select	ENSP00000426638.1:p.Arg358Ser
NM_001281737.1:c.933G>T	NP_001268666.1:p.Arg311Ser
NM_001281737.2:c.933G>T	NP_001268666.1:p.Arg311Ser
NM_001281738.1:c.891G>T	NP_001268667.1:p.Arg297Ser
NM_004453.3:c.1074G>T	NP_004444.2:p.Arg358Ser
ENST00000307738.5:c.933G>T	ENSP00000303552.5:p.Arg311Ser
ENST00000506422.1:n.87-4335G>T
ENST00000511912.5:c.1074G>T	ENSP00000426638.1:p.Arg358Ser
ENST00000681978.1:n.2610G>T
ENST00000682178.1:n.2106G>T
ENST00000682345.1:c.*774G>T	ENSP00000508122.1:n.*774G>T
ENST00000682452.1:n.1405G>T
ENST00000682456.1:c.933G>T	ENSP00000508240.1:p.Arg311Ser
ENST00000682566.1:n.1857G>T
ENST00000682613.1:n.1386G>T
ENST00000682734.1:c.-100G>T	ENSP00000507860.1:n.-100G>T
ENST00000682820.1:n.1111G>T
ENST00000683004.1:c.*809+1389G>T	ENSP00000506936.1:n.*809+1389G>T
ENST00000683079.1:c.*454G>T	ENSP00000507296.1:n.*454G>T
ENST00000683081.1:c.*911G>T	ENSP00000507722.1:n.*911G>T
ENST00000683181.1:n.308G>T
ENST00000683305.1:c.891G>T	ENSP00000508043.1:p.Arg297Ser
ENST00000683448.1:c.579G>T	ENSP00000506931.1:p.Arg193Ser
ENST00000683478.1:c.*425G>T	ENSP00000507793.1:n.*425G>T
ENST00000683483.1:c.972+1389G>T	ENSP00000507719.1:n.972+1389G>T
ENST00000683751.1:c.579G>T	ENSP00000506944.1:p.Arg193Ser
ENST00000684036.1:c.891G>T	ENSP00000507276.1:p.Arg297Ser
ENST00000684129.1:c.-145G>T	ENSP00000507174.1:n.-145G>T
ENST00000684209.1:n.1449G>T
ENST00000684296.1:c.1074G>T	ENSP00000507740.1:p.Arg358Ser
ENST00000684505.1:c.1023G>T	ENSP00000508237.1:p.Arg341Ser
ENST00000684552.1:c.1074G>T	ENSP00000506899.1:p.Arg358Ser
ENST00000684611.1:n.2802G>T
ENST00000684622.1:c.1074G>T	ENSP00000507546.1:p.Arg358Ser
ENST00000684627.1:c.891G>T	ENSP00000507471.1:p.Arg297Ser
ENST00000684641.1:c.831+3445G>T	ENSP00000507642.1:n.831+3445G>T
ENST00000684675.1:c.1074G>T	ENSP00000506934.1:p.Arg358Ser
ENST00000684749.1:n.1143G>T
XM_024453935.1:c.891G>T	XP_024309703.1:p.Arg297Ser