Canonical Allele Identifier: CA358573042

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158672490G>C , CM000666.2:g.158672490G>C	GRCh38
NC_000004.11:g.159593642G>C , CM000666.1:g.159593642G>C	GRCh37
NC_000004.10:g.159813092G>C	NCBI36
NG_007078.2:g.5149G>C
NG_033150.1:g.4766C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.34G>C MANE Select	NP_004444.2:p.Ala12Pro
ENST00000511912.6:c.34G>C MANE Select	ENSP00000426638.1:p.Ala12Pro
NM_001281737.1:c.34G>C	NP_001268666.1:p.Gly12Arg
NM_001281737.2:c.34G>C	NP_001268666.1:p.Gly12Arg
NM_004453.3:c.34G>C	NP_004444.2:p.Ala12Pro
ENST00000307738.5:c.34G>C	ENSP00000303552.5:p.Gly12Arg
ENST00000436096.2:n.175G>C
ENST00000436096.3:n.285G>C
ENST00000506422.1:n.86G>C
ENST00000507475.5:c.-91G>C	ENSP00000422735.1:n.-91G>C
ENST00000507475.6:n.178G>C
ENST00000510353.5:n.175G>C
ENST00000511912.5:c.34G>C	ENSP00000426638.1:p.Ala12Pro
ENST00000512251.5:c.34G>C	ENSP00000425661.1:p.Asp12His
ENST00000512251.6:n.523G>C
ENST00000682345.1:c.34G>C	ENSP00000508122.1:p.Asp12His
ENST00000682409.1:n.143G>C
ENST00000682456.1:c.34G>C	ENSP00000508240.1:p.Ala12Pro
ENST00000682601.1:n.225G>C
ENST00000682734.1:c.-650G>C	ENSP00000507860.1:n.-650G>C
ENST00000683004.1:c.34G>C	ENSP00000506936.1:p.Ala12Pro
ENST00000683079.1:c.34G>C	ENSP00000507296.1:p.Ala12Pro
ENST00000683081.1:c.34G>C	ENSP00000507722.1:p.Ala12Pro
ENST00000683305.1:c.-53G>C	ENSP00000508043.1:n.-53G>C
ENST00000683448.1:c.-91G>C	ENSP00000506931.1:n.-91G>C
ENST00000683478.1:c.34G>C	ENSP00000507793.1:p.Ala12Pro
ENST00000683483.1:c.34G>C	ENSP00000507719.1:p.Ala12Pro
ENST00000683750.1:n.157G>C
ENST00000683751.1:c.-91G>C	ENSP00000506944.1:n.-91G>C
ENST00000684036.1:c.-380G>C	ENSP00000507276.1:n.-380G>C
ENST00000684129.1:c.-695G>C	ENSP00000507174.1:n.-695G>C
ENST00000684296.1:c.34G>C	ENSP00000507740.1:p.Ala12Pro
ENST00000684505.1:c.34G>C	ENSP00000508237.1:p.Ala12Pro
ENST00000684552.1:c.34G>C	ENSP00000506899.1:p.Ala12Pro
ENST00000684611.1:n.175G>C
ENST00000684622.1:c.34G>C	ENSP00000507546.1:p.Ala12Pro
ENST00000684627.1:c.-538G>C	ENSP00000507471.1:n.-538G>C
ENST00000684641.1:c.34G>C	ENSP00000507642.1:p.Ala12Pro
ENST00000684675.1:c.34G>C	ENSP00000506934.1:p.Ala12Pro