Canonical Allele Identifier: CA358566808

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708468C>T , CM000666.2:g.158708468C>T	GRCh38
NC_000004.11:g.159629620C>T , CM000666.1:g.159629620C>T	GRCh37
NC_000004.10:g.159849070C>T	NCBI36
NG_007078.2:g.41127C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1795C>T MANE Select	NP_004444.2:p.Gln599Ter
ENST00000511912.6:c.1795C>T MANE Select	ENSP00000426638.1:p.Gln599Ter
NM_001281737.1:c.1654C>T	NP_001268666.1:p.Gln552Ter
NM_001281737.2:c.1654C>T	NP_001268666.1:p.Gln552Ter
NM_001281738.1:c.1612C>T	NP_001268667.1:p.Gln538Ter
NM_004453.3:c.1795C>T	NP_004444.2:p.Gln599Ter
ENST00000307738.5:c.1654C>T	ENSP00000303552.5:p.Gln552Ter
ENST00000506422.1:n.765C>T
ENST00000511912.5:c.1795C>T	ENSP00000426638.1:p.Gln599Ter
ENST00000681978.1:n.3331C>T
ENST00000682178.1:n.2827C>T
ENST00000682345.1:c.*1495C>T	ENSP00000508122.1:n.*1495C>T
ENST00000682452.1:n.2126C>T
ENST00000682456.1:c.1654C>T	ENSP00000508240.1:p.Gln552Ter
ENST00000682566.1:n.2578C>T
ENST00000682613.1:n.2107C>T
ENST00000682734.1:c.622C>T	ENSP00000507860.1:p.Gln208Ter
ENST00000682820.1:n.1832C>T
ENST00000683004.1:c.*1488C>T	ENSP00000506936.1:n.*1488C>T
ENST00000683079.1:c.*1220C>T	ENSP00000507296.1:n.*1220C>T
ENST00000683081.1:c.*1632C>T	ENSP00000507722.1:n.*1632C>T
ENST00000683181.1:n.1074C>T
ENST00000683209.1:n.4121C>T
ENST00000683305.1:c.1612C>T	ENSP00000508043.1:p.Gln538Ter
ENST00000683448.1:c.*715C>T	ENSP00000506931.1:n.*715C>T
ENST00000683478.1:c.*1146C>T	ENSP00000507793.1:n.*1146C>T
ENST00000683483.1:c.1651C>T	ENSP00000507719.1:p.Gln551Ter
ENST00000683622.1:n.3022C>T
ENST00000683751.1:c.1300C>T	ENSP00000506944.1:p.Gln434Ter
ENST00000684036.1:c.1612C>T	ENSP00000507276.1:p.Gln538Ter
ENST00000684129.1:c.622C>T	ENSP00000507174.1:p.Gln208Ter
ENST00000684209.1:n.2170C>T
ENST00000684296.1:c.*715C>T	ENSP00000507740.1:n.*715C>T
ENST00000684505.1:c.1744C>T	ENSP00000508237.1:p.Gln582Ter
ENST00000684552.1:c.*3214C>T	ENSP00000506899.1:n.*3214C>T
ENST00000684611.1:n.3523C>T
ENST00000684622.1:c.*155C>T	ENSP00000507546.1:n.*155C>T
ENST00000684627.1:c.1612C>T	ENSP00000507471.1:p.Gln538Ter
ENST00000684641.1:c.1510C>T	ENSP00000507642.1:p.Gln504Ter
ENST00000684675.1:c.*642C>T	ENSP00000506934.1:n.*642C>T
ENST00000684749.1:n.1864C>T
XM_024453935.1:c.1612C>T	XP_024309703.1:p.Gln538Ter