Canonical Allele Identifier: CA358563000

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703533A>C , CM000666.2:g.158703533A>C	GRCh38
NC_000004.11:g.159624685A>C , CM000666.1:g.159624685A>C	GRCh37
NC_000004.10:g.159844135A>C	NCBI36
NG_007078.2:g.36192A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1227A>C MANE Select	NP_004444.2:p.Leu409Phe
ENST00000511912.6:c.1227A>C MANE Select	ENSP00000426638.1:p.Leu409Phe
NM_001281737.1:c.1086A>C	NP_001268666.1:p.Leu362Phe
NM_001281737.2:c.1086A>C	NP_001268666.1:p.Leu362Phe
NM_001281738.1:c.1044A>C	NP_001268667.1:p.Leu348Phe
NM_004453.3:c.1227A>C	NP_004444.2:p.Leu409Phe
ENST00000307738.5:c.1086A>C	ENSP00000303552.5:p.Leu362Phe
ENST00000506422.1:n.197A>C
ENST00000511912.5:c.1227A>C	ENSP00000426638.1:p.Leu409Phe
ENST00000681978.1:n.2763A>C
ENST00000682178.1:n.2259A>C
ENST00000682345.1:c.*927A>C	ENSP00000508122.1:n.*927A>C
ENST00000682452.1:n.1558A>C
ENST00000682456.1:c.1086A>C	ENSP00000508240.1:p.Leu362Phe
ENST00000682566.1:n.2010A>C
ENST00000682613.1:n.1539A>C
ENST00000682734.1:c.54A>C	ENSP00000507860.1:p.Leu18Phe
ENST00000682820.1:n.1264A>C
ENST00000683004.1:c.*920A>C	ENSP00000506936.1:n.*920A>C
ENST00000683079.1:c.*652A>C	ENSP00000507296.1:n.*652A>C
ENST00000683081.1:c.*1064A>C	ENSP00000507722.1:n.*1064A>C
ENST00000683181.1:n.506A>C
ENST00000683209.1:n.3553A>C
ENST00000683305.1:c.1044A>C	ENSP00000508043.1:p.Leu348Phe
ENST00000683448.1:c.*147A>C	ENSP00000506931.1:n.*147A>C
ENST00000683478.1:c.*578A>C	ENSP00000507793.1:n.*578A>C
ENST00000683483.1:c.1083A>C	ENSP00000507719.1:p.Leu361Phe
ENST00000683622.1:n.941A>C
ENST00000683751.1:c.732A>C	ENSP00000506944.1:p.Leu244Phe
ENST00000684036.1:c.1044A>C	ENSP00000507276.1:p.Leu348Phe
ENST00000684129.1:c.54A>C	ENSP00000507174.1:p.Leu18Phe
ENST00000684209.1:n.1602A>C
ENST00000684296.1:c.*147A>C	ENSP00000507740.1:n.*147A>C
ENST00000684505.1:c.1176A>C	ENSP00000508237.1:p.Leu392Phe
ENST00000684552.1:c.*147A>C	ENSP00000506899.1:n.*147A>C
ENST00000684611.1:n.2955A>C
ENST00000684622.1:c.1227A>C	ENSP00000507546.1:p.Leu409Phe
ENST00000684627.1:c.1044A>C	ENSP00000507471.1:p.Leu348Phe
ENST00000684641.1:c.942A>C	ENSP00000507642.1:p.Leu314Phe
ENST00000684675.1:c.*74A>C	ENSP00000506934.1:n.*74A>C
ENST00000684749.1:n.1296A>C
XM_024453935.1:c.1044A>C	XP_024309703.1:p.Leu348Phe