Canonical Allele Identifier: CA358560019

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158690406A>C , CM000666.2:g.158690406A>C	GRCh38
NC_000004.11:g.159611558A>C , CM000666.1:g.159611558A>C	GRCh37
NC_000004.10:g.159831008A>C	NCBI36
NG_007078.2:g.23065A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.665A>C MANE Select	NP_004444.2:p.Gln222Pro
ENST00000511912.6:c.665A>C MANE Select	ENSP00000426638.1:p.Gln222Pro
NM_001281737.1:c.524A>C	NP_001268666.1:p.Gln175Pro
NM_001281737.2:c.524A>C	NP_001268666.1:p.Gln175Pro
NM_001281738.1:c.482A>C	NP_001268667.1:p.Gln161Pro
NM_004453.3:c.665A>C	NP_004444.2:p.Gln222Pro
ENST00000307738.5:c.524A>C	ENSP00000303552.5:p.Gln175Pro
ENST00000506422.1:n.87-13017A>C
ENST00000507475.5:c.170A>C	ENSP00000422735.1:p.Gln57Pro
ENST00000507475.6:n.438A>C
ENST00000511912.5:c.665A>C	ENSP00000426638.1:p.Gln222Pro
ENST00000681978.1:n.914A>C
ENST00000682178.1:n.1697A>C
ENST00000682345.1:c.*365A>C	ENSP00000508122.1:n.*365A>C
ENST00000682452.1:n.996A>C
ENST00000682456.1:c.665A>C	ENSP00000508240.1:p.Gln222Pro
ENST00000682601.1:n.856A>C
ENST00000682734.1:c.-509A>C	ENSP00000507860.1:n.-509A>C
ENST00000682820.1:n.702A>C
ENST00000682910.1:n.972A>C
ENST00000683004.1:c.*502A>C	ENSP00000506936.1:n.*502A>C
ENST00000683079.1:c.*45A>C	ENSP00000507296.1:n.*45A>C
ENST00000683081.1:c.*502A>C	ENSP00000507722.1:n.*502A>C
ENST00000683305.1:c.482A>C	ENSP00000508043.1:p.Gln161Pro
ENST00000683448.1:c.170A>C	ENSP00000506931.1:p.Gln57Pro
ENST00000683478.1:c.*45A>C	ENSP00000507793.1:n.*45A>C
ENST00000683483.1:c.665A>C	ENSP00000507719.1:p.Gln222Pro
ENST00000683750.1:n.788A>C
ENST00000683751.1:c.170A>C	ENSP00000506944.1:p.Gln57Pro
ENST00000684036.1:c.482A>C	ENSP00000507276.1:p.Gln161Pro
ENST00000684129.1:c.-554A>C	ENSP00000507174.1:n.-554A>C
ENST00000684209.1:n.905A>C
ENST00000684296.1:c.665A>C	ENSP00000507740.1:p.Gln222Pro
ENST00000684505.1:c.614A>C	ENSP00000508237.1:p.Gln205Pro
ENST00000684552.1:c.665A>C	ENSP00000506899.1:p.Gln222Pro
ENST00000684611.1:n.2393A>C
ENST00000684622.1:c.665A>C	ENSP00000507546.1:p.Gln222Pro
ENST00000684627.1:c.482A>C	ENSP00000507471.1:p.Gln161Pro
ENST00000684641.1:c.665A>C	ENSP00000507642.1:p.Gln222Pro
ENST00000684675.1:c.665A>C	ENSP00000506934.1:p.Gln222Pro
ENST00000684749.1:n.734A>C
XM_024453935.1:c.482A>C	XP_024309703.1:p.Gln161Pro