Canonical Allele Identifier: CA358574194

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158682315G>C , CM000666.2:g.158682315G>C	GRCh38
NC_000004.11:g.159603467G>C , CM000666.1:g.159603467G>C	GRCh37
NC_000004.10:g.159822917G>C	NCBI36
NG_007078.2:g.14974G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.296G>C MANE Select	NP_004444.2:p.Arg99Pro
ENST00000511912.6:c.296G>C MANE Select	ENSP00000426638.1:p.Arg99Pro
NM_001281737.1:c.155G>C	NP_001268666.1:p.Arg52Pro
NM_001281737.2:c.155G>C	NP_001268666.1:p.Arg52Pro
NM_001281738.1:c.113G>C	NP_001268667.1:p.Arg38Pro
NM_004453.3:c.296G>C	NP_004444.2:p.Arg99Pro
ENST00000307738.5:c.155G>C	ENSP00000303552.5:p.Arg52Pro
ENST00000436096.2:n.481G>C
ENST00000436096.3:n.547G>C
ENST00000506422.1:n.86+9825G>C
ENST00000507475.5:c.-90-2277G>C	ENSP00000422735.1:n.-90-2277G>C
ENST00000507475.6:n.179-2277G>C
ENST00000511912.5:c.296G>C	ENSP00000426638.1:p.Arg99Pro
ENST00000514148.1:n.374G>C
ENST00000681978.1:n.545G>C
ENST00000682178.1:n.1328G>C
ENST00000682345.1:c.*115G>C	ENSP00000508122.1:n.*115G>C
ENST00000682409.1:n.1992G>C
ENST00000682452.1:n.627G>C
ENST00000682456.1:c.296G>C	ENSP00000508240.1:p.Arg99Pro
ENST00000682601.1:n.487G>C
ENST00000682734.1:c.-649-2277G>C	ENSP00000507860.1:n.-649-2277G>C
ENST00000682820.1:n.333G>C
ENST00000682910.1:n.603G>C
ENST00000683004.1:c.*133G>C	ENSP00000506936.1:n.*133G>C
ENST00000683079.1:c.296G>C	ENSP00000507296.1:p.Arg99Pro
ENST00000683081.1:c.*133G>C	ENSP00000507722.1:n.*133G>C
ENST00000683305.1:c.113G>C	ENSP00000508043.1:p.Arg38Pro
ENST00000683448.1:c.-90-2277G>C	ENSP00000506931.1:n.-90-2277G>C
ENST00000683478.1:c.296G>C	ENSP00000507793.1:p.Arg99Pro
ENST00000683483.1:c.296G>C	ENSP00000507719.1:p.Arg99Pro
ENST00000683750.1:n.419G>C
ENST00000683751.1:c.-90-2277G>C	ENSP00000506944.1:n.-90-2277G>C
ENST00000683799.1:n.1612G>C
ENST00000684036.1:c.113G>C	ENSP00000507276.1:p.Arg38Pro
ENST00000684129.1:c.-694-2277G>C	ENSP00000507174.1:n.-694-2277G>C
ENST00000684209.1:n.536G>C
ENST00000684296.1:c.296G>C	ENSP00000507740.1:p.Arg99Pro
ENST00000684505.1:c.296G>C	ENSP00000508237.1:p.Arg99Pro
ENST00000684552.1:c.296G>C	ENSP00000506899.1:p.Arg99Pro
ENST00000684611.1:n.2024G>C
ENST00000684622.1:c.296G>C	ENSP00000507546.1:p.Arg99Pro
ENST00000684627.1:c.113G>C	ENSP00000507471.1:p.Arg38Pro
ENST00000684641.1:c.296G>C	ENSP00000507642.1:p.Arg99Pro
ENST00000684675.1:c.296G>C	ENSP00000506934.1:p.Arg99Pro
ENST00000684749.1:n.365G>C
XM_024453935.1:c.113G>C	XP_024309703.1:p.Arg38Pro