Canonical Allele Identifier: CA3122479

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158697562T>C , CM000666.2:g.158697562T>C	GRCh38
NC_000004.11:g.159618714T>C , CM000666.1:g.159618714T>C	GRCh37
NC_000004.10:g.159838164T>C	NCBI36
NG_007078.2:g.30221T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.835T>C MANE Select	NP_004444.2:p.Trp279Arg
ENST00000511912.6:c.835T>C MANE Select	ENSP00000426638.1:p.Trp279Arg
NM_001281737.1:c.694T>C	NP_001268666.1:p.Trp232Arg
NM_001281737.2:c.694T>C	NP_001268666.1:p.Trp232Arg
NM_001281738.1:c.652T>C	NP_001268667.1:p.Trp218Arg
NM_004453.3:c.835T>C	NP_004444.2:p.Trp279Arg
ENST00000307738.5:c.694T>C	ENSP00000303552.5:p.Trp232Arg
ENST00000506422.1:n.87-5861T>C
ENST00000507475.5:c.340T>C	ENSP00000422735.1:p.Trp114Arg
ENST00000507475.6:n.608T>C
ENST00000511912.5:c.835T>C	ENSP00000426638.1:p.Trp279Arg
ENST00000681978.1:n.1084T>C
ENST00000682178.1:n.1867T>C
ENST00000682345.1:c.*535T>C	ENSP00000508122.1:n.*535T>C
ENST00000682452.1:n.1166T>C
ENST00000682456.1:c.832-1425T>C	ENSP00000508240.1:n.832-1425T>C
ENST00000682566.1:n.331T>C
ENST00000682601.1:n.1026T>C
ENST00000682613.1:n.1147T>C
ENST00000682734.1:c.-339T>C	ENSP00000507860.1:n.-339T>C
ENST00000682820.1:n.872T>C
ENST00000683004.1:c.*672T>C	ENSP00000506936.1:n.*672T>C
ENST00000683079.1:c.*215T>C	ENSP00000507296.1:n.*215T>C
ENST00000683081.1:c.*672T>C	ENSP00000507722.1:n.*672T>C
ENST00000683305.1:c.652T>C	ENSP00000508043.1:p.Trp218Arg
ENST00000683448.1:c.340T>C	ENSP00000506931.1:p.Trp114Arg
ENST00000683478.1:c.*215T>C	ENSP00000507793.1:n.*215T>C
ENST00000683483.1:c.835T>C	ENSP00000507719.1:p.Trp279Arg
ENST00000683751.1:c.340T>C	ENSP00000506944.1:p.Trp114Arg
ENST00000684036.1:c.652T>C	ENSP00000507276.1:p.Trp218Arg
ENST00000684129.1:c.-384T>C	ENSP00000507174.1:n.-384T>C
ENST00000684209.1:n.1210T>C
ENST00000684296.1:c.835T>C	ENSP00000507740.1:p.Trp279Arg
ENST00000684505.1:c.784T>C	ENSP00000508237.1:p.Trp262Arg
ENST00000684552.1:c.835T>C	ENSP00000506899.1:p.Trp279Arg
ENST00000684611.1:n.2563T>C
ENST00000684622.1:c.835T>C	ENSP00000507546.1:p.Trp279Arg
ENST00000684627.1:c.652T>C	ENSP00000507471.1:p.Trp218Arg
ENST00000684641.1:c.831+1919T>C	ENSP00000507642.1:n.831+1919T>C
ENST00000684675.1:c.835T>C	ENSP00000506934.1:p.Trp279Arg
ENST00000684749.1:n.904T>C
XM_024453935.1:c.652T>C	XP_024309703.1:p.Trp218Arg