Canonical Allele Identifier: CA358560898

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158695598G>T , CM000666.2:g.158695598G>T	GRCh38
NC_000004.11:g.159616750G>T , CM000666.1:g.159616750G>T	GRCh37
NC_000004.10:g.159836200G>T	NCBI36
NG_007078.2:g.28257G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.786G>T MANE Select	NP_004444.2:p.Leu262Phe
ENST00000511912.6:c.786G>T MANE Select	ENSP00000426638.1:p.Leu262Phe
NM_001281737.1:c.645G>T	NP_001268666.1:p.Leu215Phe
NM_001281737.2:c.645G>T	NP_001268666.1:p.Leu215Phe
NM_001281738.1:c.603G>T	NP_001268667.1:p.Leu201Phe
NM_004453.3:c.786G>T	NP_004444.2:p.Leu262Phe
ENST00000307738.5:c.645G>T	ENSP00000303552.5:p.Leu215Phe
ENST00000506422.1:n.87-7825G>T
ENST00000507475.5:c.291G>T	ENSP00000422735.1:p.Leu97Phe
ENST00000507475.6:n.559G>T
ENST00000511912.5:c.786G>T	ENSP00000426638.1:p.Leu262Phe
ENST00000681978.1:n.1035G>T
ENST00000682178.1:n.1818G>T
ENST00000682345.1:c.*486G>T	ENSP00000508122.1:n.*486G>T
ENST00000682452.1:n.1117G>T
ENST00000682456.1:c.786G>T	ENSP00000508240.1:p.Leu262Phe
ENST00000682566.1:n.282G>T
ENST00000682601.1:n.977G>T
ENST00000682613.1:n.1098G>T
ENST00000682734.1:c.-388G>T	ENSP00000507860.1:n.-388G>T
ENST00000682820.1:n.823G>T
ENST00000683004.1:c.*623G>T	ENSP00000506936.1:n.*623G>T
ENST00000683079.1:c.*166G>T	ENSP00000507296.1:n.*166G>T
ENST00000683081.1:c.*623G>T	ENSP00000507722.1:n.*623G>T
ENST00000683305.1:c.603G>T	ENSP00000508043.1:p.Leu201Phe
ENST00000683448.1:c.291G>T	ENSP00000506931.1:p.Leu97Phe
ENST00000683478.1:c.*166G>T	ENSP00000507793.1:n.*166G>T
ENST00000683483.1:c.786G>T	ENSP00000507719.1:p.Leu262Phe
ENST00000683751.1:c.291G>T	ENSP00000506944.1:p.Leu97Phe
ENST00000684036.1:c.603G>T	ENSP00000507276.1:p.Leu201Phe
ENST00000684129.1:c.-433G>T	ENSP00000507174.1:n.-433G>T
ENST00000684209.1:n.1161G>T
ENST00000684296.1:c.786G>T	ENSP00000507740.1:p.Leu262Phe
ENST00000684505.1:c.735G>T	ENSP00000508237.1:p.Leu245Phe
ENST00000684552.1:c.786G>T	ENSP00000506899.1:p.Leu262Phe
ENST00000684611.1:n.2514G>T
ENST00000684622.1:c.786G>T	ENSP00000507546.1:p.Leu262Phe
ENST00000684627.1:c.603G>T	ENSP00000507471.1:p.Leu201Phe
ENST00000684641.1:c.786G>T	ENSP00000507642.1:p.Leu262Phe
ENST00000684675.1:c.786G>T	ENSP00000506934.1:p.Leu262Phe
ENST00000684749.1:n.855G>T
XM_024453935.1:c.603G>T	XP_024309703.1:p.Leu201Phe