Canonical Allele Identifier: CA358566945

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708501G>C , CM000666.2:g.158708501G>C	GRCh38
NC_000004.11:g.159629653G>C , CM000666.1:g.159629653G>C	GRCh37
NC_000004.10:g.159849103G>C	NCBI36
NG_007078.2:g.41160G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1828G>C MANE Select	NP_004444.2:p.Gly610Arg
ENST00000511912.6:c.1828G>C MANE Select	ENSP00000426638.1:p.Gly610Arg
NM_001281737.1:c.1687G>C	NP_001268666.1:p.Gly563Arg
NM_001281737.2:c.1687G>C	NP_001268666.1:p.Gly563Arg
NM_001281738.1:c.1645G>C	NP_001268667.1:p.Gly549Arg
NM_004453.3:c.1828G>C	NP_004444.2:p.Gly610Arg
ENST00000307738.5:c.1687G>C	ENSP00000303552.5:p.Gly563Arg
ENST00000506422.1:n.798G>C
ENST00000511912.5:c.1828G>C	ENSP00000426638.1:p.Gly610Arg
ENST00000681978.1:n.3364G>C
ENST00000682178.1:n.2860G>C
ENST00000682345.1:c.*1528G>C	ENSP00000508122.1:n.*1528G>C
ENST00000682452.1:n.2159G>C
ENST00000682456.1:c.1687G>C	ENSP00000508240.1:p.Gly563Arg
ENST00000682566.1:n.2611G>C
ENST00000682613.1:n.2140G>C
ENST00000682734.1:c.655G>C	ENSP00000507860.1:p.Gly219Arg
ENST00000682820.1:n.1865G>C
ENST00000683004.1:c.*1521G>C	ENSP00000506936.1:n.*1521G>C
ENST00000683079.1:c.*1253G>C	ENSP00000507296.1:n.*1253G>C
ENST00000683081.1:c.*1665G>C	ENSP00000507722.1:n.*1665G>C
ENST00000683181.1:n.1107G>C
ENST00000683209.1:n.4154G>C
ENST00000683305.1:c.1645G>C	ENSP00000508043.1:p.Gly549Arg
ENST00000683448.1:c.*748G>C	ENSP00000506931.1:n.*748G>C
ENST00000683478.1:c.*1179G>C	ENSP00000507793.1:n.*1179G>C
ENST00000683483.1:c.1684G>C	ENSP00000507719.1:p.Gly562Arg
ENST00000683622.1:n.3055G>C
ENST00000683751.1:c.1333G>C	ENSP00000506944.1:p.Gly445Arg
ENST00000684036.1:c.1645G>C	ENSP00000507276.1:p.Gly549Arg
ENST00000684129.1:c.655G>C	ENSP00000507174.1:p.Gly219Arg
ENST00000684209.1:n.2203G>C
ENST00000684296.1:c.*748G>C	ENSP00000507740.1:n.*748G>C
ENST00000684505.1:c.1777G>C	ENSP00000508237.1:p.Gly593Arg
ENST00000684552.1:c.*3247G>C	ENSP00000506899.1:n.*3247G>C
ENST00000684611.1:n.3556G>C
ENST00000684627.1:c.1645G>C	ENSP00000507471.1:p.Gly549Arg
ENST00000684641.1:c.1543G>C	ENSP00000507642.1:p.Gly515Arg
ENST00000684675.1:c.*675G>C	ENSP00000506934.1:n.*675G>C
ENST00000684749.1:n.1897G>C
XM_024453935.1:c.1645G>C	XP_024309703.1:p.Gly549Arg