Canonical Allele Identifier: CA358562347

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158699113A>G , CM000666.2:g.158699113A>G	GRCh38
NC_000004.11:g.159620265A>G , CM000666.1:g.159620265A>G	GRCh37
NC_000004.10:g.159839715A>G	NCBI36
NG_007078.2:g.31772A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1099A>G MANE Select	NP_004444.2:p.Asn367Asp
ENST00000511912.6:c.1099A>G MANE Select	ENSP00000426638.1:p.Asn367Asp
NM_001281737.1:c.958A>G	NP_001268666.1:p.Asn320Asp
NM_001281737.2:c.958A>G	NP_001268666.1:p.Asn320Asp
NM_001281738.1:c.916A>G	NP_001268667.1:p.Asn306Asp
NM_004453.3:c.1099A>G	NP_004444.2:p.Asn367Asp
ENST00000307738.5:c.958A>G	ENSP00000303552.5:p.Asn320Asp
ENST00000506422.1:n.87-4310A>G
ENST00000511912.5:c.1099A>G	ENSP00000426638.1:p.Asn367Asp
ENST00000681978.1:n.2635A>G
ENST00000682178.1:n.2131A>G
ENST00000682345.1:c.*799A>G	ENSP00000508122.1:n.*799A>G
ENST00000682452.1:n.1430A>G
ENST00000682456.1:c.958A>G	ENSP00000508240.1:p.Asn320Asp
ENST00000682566.1:n.1882A>G
ENST00000682613.1:n.1411A>G
ENST00000682734.1:c.-75A>G	ENSP00000507860.1:n.-75A>G
ENST00000682820.1:n.1136A>G
ENST00000683004.1:c.*809+1414A>G	ENSP00000506936.1:n.*809+1414A>G
ENST00000683079.1:c.*479A>G	ENSP00000507296.1:n.*479A>G
ENST00000683081.1:c.*936A>G	ENSP00000507722.1:n.*936A>G
ENST00000683181.1:n.333A>G
ENST00000683305.1:c.916A>G	ENSP00000508043.1:p.Asn306Asp
ENST00000683448.1:c.604A>G	ENSP00000506931.1:p.Asn202Asp
ENST00000683478.1:c.*450A>G	ENSP00000507793.1:n.*450A>G
ENST00000683483.1:c.972+1414A>G	ENSP00000507719.1:n.972+1414A>G
ENST00000683751.1:c.604A>G	ENSP00000506944.1:p.Asn202Asp
ENST00000684036.1:c.916A>G	ENSP00000507276.1:p.Asn306Asp
ENST00000684129.1:c.-120A>G	ENSP00000507174.1:n.-120A>G
ENST00000684209.1:n.1474A>G
ENST00000684296.1:c.1099A>G	ENSP00000507740.1:p.Asn367Asp
ENST00000684505.1:c.1048A>G	ENSP00000508237.1:p.Asn350Asp
ENST00000684552.1:c.1099A>G	ENSP00000506899.1:p.Asn367Asp
ENST00000684611.1:n.2827A>G
ENST00000684622.1:c.1099A>G	ENSP00000507546.1:p.Asn367Asp
ENST00000684627.1:c.916A>G	ENSP00000507471.1:p.Asn306Asp
ENST00000684641.1:c.831+3470A>G	ENSP00000507642.1:n.831+3470A>G
ENST00000684675.1:c.1099A>G	ENSP00000506934.1:p.Asn367Asp
ENST00000684749.1:n.1168A>G
XM_024453935.1:c.916A>G	XP_024309703.1:p.Asn306Asp