Canonical Allele Identifier: CA3122492

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158697624G>A , CM000666.2:g.158697624G>A	GRCh38
NC_000004.11:g.159618776G>A , CM000666.1:g.159618776G>A	GRCh37
NC_000004.10:g.159838226G>A	NCBI36
NG_007078.2:g.30283G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.897G>A MANE Select	NP_004444.2:p.Leu299=
ENST00000511912.6:c.897G>A MANE Select	ENSP00000426638.1:p.Leu299=
NM_001281737.1:c.756G>A	NP_001268666.1:p.Leu252=
NM_001281737.2:c.756G>A	NP_001268666.1:p.Leu252=
NM_001281738.1:c.714G>A	NP_001268667.1:p.Leu238=
NM_004453.3:c.897G>A	NP_004444.2:p.Leu299=
ENST00000307738.5:c.756G>A	ENSP00000303552.5:p.Leu252=
ENST00000506422.1:n.87-5799G>A
ENST00000507475.5:c.402G>A	ENSP00000422735.1:p.Leu134=
ENST00000507475.6:n.670G>A
ENST00000511912.5:c.897G>A	ENSP00000426638.1:p.Leu299=
ENST00000681978.1:n.1146G>A
ENST00000682178.1:n.1929G>A
ENST00000682345.1:c.*597G>A	ENSP00000508122.1:n.*597G>A
ENST00000682452.1:n.1228G>A
ENST00000682456.1:c.832-1363G>A	ENSP00000508240.1:n.832-1363G>A
ENST00000682566.1:n.393G>A
ENST00000682601.1:n.1088G>A
ENST00000682613.1:n.1209G>A
ENST00000682734.1:c.-277G>A	ENSP00000507860.1:n.-277G>A
ENST00000682820.1:n.934G>A
ENST00000683004.1:c.*734G>A	ENSP00000506936.1:n.*734G>A
ENST00000683079.1:c.*277G>A	ENSP00000507296.1:n.*277G>A
ENST00000683081.1:c.*734G>A	ENSP00000507722.1:n.*734G>A
ENST00000683305.1:c.714G>A	ENSP00000508043.1:p.Leu238=
ENST00000683448.1:c.402G>A	ENSP00000506931.1:p.Leu134=
ENST00000683478.1:c.*277G>A	ENSP00000507793.1:n.*277G>A
ENST00000683483.1:c.897G>A	ENSP00000507719.1:p.Leu299=
ENST00000683751.1:c.402G>A	ENSP00000506944.1:p.Leu134=
ENST00000684036.1:c.714G>A	ENSP00000507276.1:p.Leu238=
ENST00000684129.1:c.-322G>A	ENSP00000507174.1:n.-322G>A
ENST00000684209.1:n.1272G>A
ENST00000684296.1:c.897G>A	ENSP00000507740.1:p.Leu299=
ENST00000684505.1:c.846G>A	ENSP00000508237.1:p.Leu282=
ENST00000684552.1:c.897G>A	ENSP00000506899.1:p.Leu299=
ENST00000684611.1:n.2625G>A
ENST00000684622.1:c.897G>A	ENSP00000507546.1:p.Leu299=
ENST00000684627.1:c.714G>A	ENSP00000507471.1:p.Leu238=
ENST00000684641.1:c.831+1981G>A	ENSP00000507642.1:n.831+1981G>A
ENST00000684675.1:c.897G>A	ENSP00000506934.1:p.Leu299=
ENST00000684749.1:n.966G>A
XM_024453935.1:c.714G>A	XP_024309703.1:p.Leu238=