Canonical Allele Identifier: CA358562365

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158699120G>C , CM000666.2:g.158699120G>C	GRCh38
NC_000004.11:g.159620272G>C , CM000666.1:g.159620272G>C	GRCh37
NC_000004.10:g.159839722G>C	NCBI36
NG_007078.2:g.31779G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1106G>C MANE Select	NP_004444.2:p.Gly369Ala
ENST00000511912.6:c.1106G>C MANE Select	ENSP00000426638.1:p.Gly369Ala
NM_001281737.1:c.965G>C	NP_001268666.1:p.Gly322Ala
NM_001281737.2:c.965G>C	NP_001268666.1:p.Gly322Ala
NM_001281738.1:c.923G>C	NP_001268667.1:p.Gly308Ala
NM_004453.3:c.1106G>C	NP_004444.2:p.Gly369Ala
ENST00000307738.5:c.965G>C	ENSP00000303552.5:p.Gly322Ala
ENST00000506422.1:n.87-4303G>C
ENST00000511912.5:c.1106G>C	ENSP00000426638.1:p.Gly369Ala
ENST00000681978.1:n.2642G>C
ENST00000682178.1:n.2138G>C
ENST00000682345.1:c.*806G>C	ENSP00000508122.1:n.*806G>C
ENST00000682452.1:n.1437G>C
ENST00000682456.1:c.965G>C	ENSP00000508240.1:p.Gly322Ala
ENST00000682566.1:n.1889G>C
ENST00000682613.1:n.1418G>C
ENST00000682734.1:c.-68G>C	ENSP00000507860.1:n.-68G>C
ENST00000682820.1:n.1143G>C
ENST00000683004.1:c.*809+1421G>C	ENSP00000506936.1:n.*809+1421G>C
ENST00000683079.1:c.*486G>C	ENSP00000507296.1:n.*486G>C
ENST00000683081.1:c.*943G>C	ENSP00000507722.1:n.*943G>C
ENST00000683181.1:n.340G>C
ENST00000683305.1:c.923G>C	ENSP00000508043.1:p.Gly308Ala
ENST00000683448.1:c.611G>C	ENSP00000506931.1:p.Gly204Ala
ENST00000683478.1:c.*457G>C	ENSP00000507793.1:n.*457G>C
ENST00000683483.1:c.972+1421G>C	ENSP00000507719.1:n.972+1421G>C
ENST00000683751.1:c.611G>C	ENSP00000506944.1:p.Gly204Ala
ENST00000684036.1:c.923G>C	ENSP00000507276.1:p.Gly308Ala
ENST00000684129.1:c.-113G>C	ENSP00000507174.1:n.-113G>C
ENST00000684209.1:n.1481G>C
ENST00000684296.1:c.1106G>C	ENSP00000507740.1:p.Gly369Ala
ENST00000684505.1:c.1055G>C	ENSP00000508237.1:p.Gly352Ala
ENST00000684552.1:c.1106G>C	ENSP00000506899.1:p.Gly369Ala
ENST00000684611.1:n.2834G>C
ENST00000684622.1:c.1106G>C	ENSP00000507546.1:p.Gly369Ala
ENST00000684627.1:c.923G>C	ENSP00000507471.1:p.Gly308Ala
ENST00000684641.1:c.831+3477G>C	ENSP00000507642.1:n.831+3477G>C
ENST00000684675.1:c.1106G>C	ENSP00000506934.1:p.Gly369Ala
ENST00000684749.1:n.1175G>C
XM_024453935.1:c.923G>C	XP_024309703.1:p.Gly308Ala