Canonical Allele Identifier: CA358561942

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158699006A>T , CM000666.2:g.158699006A>T	GRCh38
NC_000004.11:g.159620158A>T , CM000666.1:g.159620158A>T	GRCh37
NC_000004.10:g.159839608A>T	NCBI36
NG_007078.2:g.31665A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.992A>T MANE Select	NP_004444.2:p.Asn331Ile
ENST00000511912.6:c.992A>T MANE Select	ENSP00000426638.1:p.Asn331Ile
NM_001281737.1:c.851A>T	NP_001268666.1:p.Asn284Ile
NM_001281737.2:c.851A>T	NP_001268666.1:p.Asn284Ile
NM_001281738.1:c.809A>T	NP_001268667.1:p.Asn270Ile
NM_004453.3:c.992A>T	NP_004444.2:p.Asn331Ile
ENST00000307738.5:c.851A>T	ENSP00000303552.5:p.Asn284Ile
ENST00000506422.1:n.87-4417A>T
ENST00000511912.5:c.992A>T	ENSP00000426638.1:p.Asn331Ile
ENST00000681978.1:n.2528A>T
ENST00000682178.1:n.2024A>T
ENST00000682345.1:c.*692A>T	ENSP00000508122.1:n.*692A>T
ENST00000682452.1:n.1323A>T
ENST00000682456.1:c.851A>T	ENSP00000508240.1:p.Asn284Ile
ENST00000682566.1:n.1775A>T
ENST00000682613.1:n.1304A>T
ENST00000682734.1:c.-182A>T	ENSP00000507860.1:n.-182A>T
ENST00000682820.1:n.1029A>T
ENST00000683004.1:c.*809+1307A>T	ENSP00000506936.1:n.*809+1307A>T
ENST00000683079.1:c.*372A>T	ENSP00000507296.1:n.*372A>T
ENST00000683081.1:c.*829A>T	ENSP00000507722.1:n.*829A>T
ENST00000683181.1:n.226A>T
ENST00000683305.1:c.809A>T	ENSP00000508043.1:p.Asn270Ile
ENST00000683448.1:c.497A>T	ENSP00000506931.1:p.Asn166Ile
ENST00000683478.1:c.*343A>T	ENSP00000507793.1:n.*343A>T
ENST00000683483.1:c.972+1307A>T	ENSP00000507719.1:n.972+1307A>T
ENST00000683751.1:c.497A>T	ENSP00000506944.1:p.Asn166Ile
ENST00000684036.1:c.809A>T	ENSP00000507276.1:p.Asn270Ile
ENST00000684129.1:c.-227A>T	ENSP00000507174.1:n.-227A>T
ENST00000684209.1:n.1367A>T
ENST00000684296.1:c.992A>T	ENSP00000507740.1:p.Asn331Ile
ENST00000684505.1:c.941A>T	ENSP00000508237.1:p.Asn314Ile
ENST00000684552.1:c.992A>T	ENSP00000506899.1:p.Asn331Ile
ENST00000684611.1:n.2720A>T
ENST00000684622.1:c.992A>T	ENSP00000507546.1:p.Asn331Ile
ENST00000684627.1:c.809A>T	ENSP00000507471.1:p.Asn270Ile
ENST00000684641.1:c.831+3363A>T	ENSP00000507642.1:n.831+3363A>T
ENST00000684675.1:c.992A>T	ENSP00000506934.1:p.Asn331Ile
ENST00000684749.1:n.1061A>T
XM_024453935.1:c.809A>T	XP_024309703.1:p.Asn270Ile