Canonical Allele Identifier: CA358562262

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158699080G>C , CM000666.2:g.158699080G>C	GRCh38
NC_000004.11:g.159620232G>C , CM000666.1:g.159620232G>C	GRCh37
NC_000004.10:g.159839682G>C	NCBI36
NG_007078.2:g.31739G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1066G>C MANE Select	NP_004444.2:p.Gly356Arg
ENST00000511912.6:c.1066G>C MANE Select	ENSP00000426638.1:p.Gly356Arg
NM_001281737.1:c.925G>C	NP_001268666.1:p.Gly309Arg
NM_001281737.2:c.925G>C	NP_001268666.1:p.Gly309Arg
NM_001281738.1:c.883G>C	NP_001268667.1:p.Gly295Arg
NM_004453.3:c.1066G>C	NP_004444.2:p.Gly356Arg
ENST00000307738.5:c.925G>C	ENSP00000303552.5:p.Gly309Arg
ENST00000506422.1:n.87-4343G>C
ENST00000511912.5:c.1066G>C	ENSP00000426638.1:p.Gly356Arg
ENST00000681978.1:n.2602G>C
ENST00000682178.1:n.2098G>C
ENST00000682345.1:c.*766G>C	ENSP00000508122.1:n.*766G>C
ENST00000682452.1:n.1397G>C
ENST00000682456.1:c.925G>C	ENSP00000508240.1:p.Gly309Arg
ENST00000682566.1:n.1849G>C
ENST00000682613.1:n.1378G>C
ENST00000682734.1:c.-108G>C	ENSP00000507860.1:n.-108G>C
ENST00000682820.1:n.1103G>C
ENST00000683004.1:c.*809+1381G>C	ENSP00000506936.1:n.*809+1381G>C
ENST00000683079.1:c.*446G>C	ENSP00000507296.1:n.*446G>C
ENST00000683081.1:c.*903G>C	ENSP00000507722.1:n.*903G>C
ENST00000683181.1:n.300G>C
ENST00000683305.1:c.883G>C	ENSP00000508043.1:p.Gly295Arg
ENST00000683448.1:c.571G>C	ENSP00000506931.1:p.Gly191Arg
ENST00000683478.1:c.*417G>C	ENSP00000507793.1:n.*417G>C
ENST00000683483.1:c.972+1381G>C	ENSP00000507719.1:n.972+1381G>C
ENST00000683751.1:c.571G>C	ENSP00000506944.1:p.Gly191Arg
ENST00000684036.1:c.883G>C	ENSP00000507276.1:p.Gly295Arg
ENST00000684129.1:c.-153G>C	ENSP00000507174.1:n.-153G>C
ENST00000684209.1:n.1441G>C
ENST00000684296.1:c.1066G>C	ENSP00000507740.1:p.Gly356Arg
ENST00000684505.1:c.1015G>C	ENSP00000508237.1:p.Gly339Arg
ENST00000684552.1:c.1066G>C	ENSP00000506899.1:p.Gly356Arg
ENST00000684611.1:n.2794G>C
ENST00000684622.1:c.1066G>C	ENSP00000507546.1:p.Gly356Arg
ENST00000684627.1:c.883G>C	ENSP00000507471.1:p.Gly295Arg
ENST00000684641.1:c.831+3437G>C	ENSP00000507642.1:n.831+3437G>C
ENST00000684675.1:c.1066G>C	ENSP00000506934.1:p.Gly356Arg
ENST00000684749.1:n.1135G>C
XM_024453935.1:c.883G>C	XP_024309703.1:p.Gly295Arg