Canonical Allele Identifier: CA3122540

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158699062C>T , CM000666.2:g.158699062C>T	GRCh38
NC_000004.11:g.159620214C>T , CM000666.1:g.159620214C>T	GRCh37
NC_000004.10:g.159839664C>T	NCBI36
NG_007078.2:g.31721C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1048C>T MANE Select	NP_004444.2:p.Arg350Trp
ENST00000511912.6:c.1048C>T MANE Select	ENSP00000426638.1:p.Arg350Trp
NM_001281737.1:c.907C>T	NP_001268666.1:p.Arg303Trp
NM_001281737.2:c.907C>T	NP_001268666.1:p.Arg303Trp
NM_001281738.1:c.865C>T	NP_001268667.1:p.Arg289Trp
NM_004453.3:c.1048C>T	NP_004444.2:p.Arg350Trp
ENST00000307738.5:c.907C>T	ENSP00000303552.5:p.Arg303Trp
ENST00000506422.1:n.87-4361C>T
ENST00000511912.5:c.1048C>T	ENSP00000426638.1:p.Arg350Trp
ENST00000681978.1:n.2584C>T
ENST00000682178.1:n.2080C>T
ENST00000682345.1:c.*748C>T	ENSP00000508122.1:n.*748C>T
ENST00000682452.1:n.1379C>T
ENST00000682456.1:c.907C>T	ENSP00000508240.1:p.Arg303Trp
ENST00000682566.1:n.1831C>T
ENST00000682613.1:n.1360C>T
ENST00000682734.1:c.-126C>T	ENSP00000507860.1:n.-126C>T
ENST00000682820.1:n.1085C>T
ENST00000683004.1:c.*809+1363C>T	ENSP00000506936.1:n.*809+1363C>T
ENST00000683079.1:c.*428C>T	ENSP00000507296.1:n.*428C>T
ENST00000683081.1:c.*885C>T	ENSP00000507722.1:n.*885C>T
ENST00000683181.1:n.282C>T
ENST00000683305.1:c.865C>T	ENSP00000508043.1:p.Arg289Trp
ENST00000683448.1:c.553C>T	ENSP00000506931.1:p.Arg185Trp
ENST00000683478.1:c.*399C>T	ENSP00000507793.1:n.*399C>T
ENST00000683483.1:c.972+1363C>T	ENSP00000507719.1:n.972+1363C>T
ENST00000683751.1:c.553C>T	ENSP00000506944.1:p.Arg185Trp
ENST00000684036.1:c.865C>T	ENSP00000507276.1:p.Arg289Trp
ENST00000684129.1:c.-171C>T	ENSP00000507174.1:n.-171C>T
ENST00000684209.1:n.1423C>T
ENST00000684296.1:c.1048C>T	ENSP00000507740.1:p.Arg350Trp
ENST00000684505.1:c.997C>T	ENSP00000508237.1:p.Arg333Trp
ENST00000684552.1:c.1048C>T	ENSP00000506899.1:p.Arg350Trp
ENST00000684611.1:n.2776C>T
ENST00000684622.1:c.1048C>T	ENSP00000507546.1:p.Arg350Trp
ENST00000684627.1:c.865C>T	ENSP00000507471.1:p.Arg289Trp
ENST00000684641.1:c.831+3419C>T	ENSP00000507642.1:n.831+3419C>T
ENST00000684675.1:c.1048C>T	ENSP00000506934.1:p.Arg350Trp
ENST00000684749.1:n.1117C>T
XM_024453935.1:c.865C>T	XP_024309703.1:p.Arg289Trp