Canonical Allele Identifier: CA358561566

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158697647C>T , CM000666.2:g.158697647C>T	GRCh38
NC_000004.11:g.159618799C>T , CM000666.1:g.159618799C>T	GRCh37
NC_000004.10:g.159838249C>T	NCBI36
NG_007078.2:g.30306C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.920C>T MANE Select	NP_004444.2:p.Ser307Phe
ENST00000511912.6:c.920C>T MANE Select	ENSP00000426638.1:p.Ser307Phe
NM_001281737.1:c.779C>T	NP_001268666.1:p.Ser260Phe
NM_001281737.2:c.779C>T	NP_001268666.1:p.Ser260Phe
NM_001281738.1:c.737C>T	NP_001268667.1:p.Ser246Phe
NM_004453.3:c.920C>T	NP_004444.2:p.Ser307Phe
ENST00000307738.5:c.779C>T	ENSP00000303552.5:p.Ser260Phe
ENST00000506422.1:n.87-5776C>T
ENST00000507475.5:c.425C>T	ENSP00000422735.1:p.Ser142Phe
ENST00000507475.6:n.693C>T
ENST00000511912.5:c.920C>T	ENSP00000426638.1:p.Ser307Phe
ENST00000681978.1:n.1169C>T
ENST00000682178.1:n.1952C>T
ENST00000682345.1:c.*620C>T	ENSP00000508122.1:n.*620C>T
ENST00000682452.1:n.1251C>T
ENST00000682456.1:c.832-1340C>T	ENSP00000508240.1:n.832-1340C>T
ENST00000682566.1:n.416C>T
ENST00000682601.1:n.1111C>T
ENST00000682613.1:n.1232C>T
ENST00000682734.1:c.-254C>T	ENSP00000507860.1:n.-254C>T
ENST00000682820.1:n.957C>T
ENST00000683004.1:c.*757C>T	ENSP00000506936.1:n.*757C>T
ENST00000683079.1:c.*300C>T	ENSP00000507296.1:n.*300C>T
ENST00000683081.1:c.*757C>T	ENSP00000507722.1:n.*757C>T
ENST00000683305.1:c.737C>T	ENSP00000508043.1:p.Ser246Phe
ENST00000683448.1:c.425C>T	ENSP00000506931.1:p.Ser142Phe
ENST00000683478.1:c.*300C>T	ENSP00000507793.1:n.*300C>T
ENST00000683483.1:c.920C>T	ENSP00000507719.1:p.Ser307Phe
ENST00000683751.1:c.425C>T	ENSP00000506944.1:p.Ser142Phe
ENST00000684036.1:c.737C>T	ENSP00000507276.1:p.Ser246Phe
ENST00000684129.1:c.-299C>T	ENSP00000507174.1:n.-299C>T
ENST00000684209.1:n.1295C>T
ENST00000684296.1:c.920C>T	ENSP00000507740.1:p.Ser307Phe
ENST00000684505.1:c.869C>T	ENSP00000508237.1:p.Ser290Phe
ENST00000684552.1:c.920C>T	ENSP00000506899.1:p.Ser307Phe
ENST00000684611.1:n.2648C>T
ENST00000684622.1:c.920C>T	ENSP00000507546.1:p.Ser307Phe
ENST00000684627.1:c.737C>T	ENSP00000507471.1:p.Ser246Phe
ENST00000684641.1:c.831+2004C>T	ENSP00000507642.1:n.831+2004C>T
ENST00000684675.1:c.920C>T	ENSP00000506934.1:p.Ser307Phe
ENST00000684749.1:n.989C>T
XM_024453935.1:c.737C>T	XP_024309703.1:p.Ser246Phe