Canonical Allele Identifier: CA358560856

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158695581T>C , CM000666.2:g.158695581T>C	GRCh38
NC_000004.11:g.159616733T>C , CM000666.1:g.159616733T>C	GRCh37
NC_000004.10:g.159836183T>C	NCBI36
NG_007078.2:g.28240T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.769T>C MANE Select	NP_004444.2:p.Tyr257His
ENST00000511912.6:c.769T>C MANE Select	ENSP00000426638.1:p.Tyr257His
NM_001281737.1:c.628T>C	NP_001268666.1:p.Tyr210His
NM_001281737.2:c.628T>C	NP_001268666.1:p.Tyr210His
NM_001281738.1:c.586T>C	NP_001268667.1:p.Tyr196His
NM_004453.3:c.769T>C	NP_004444.2:p.Tyr257His
ENST00000307738.5:c.628T>C	ENSP00000303552.5:p.Tyr210His
ENST00000506422.1:n.87-7842T>C
ENST00000507475.5:c.274T>C	ENSP00000422735.1:p.Tyr92His
ENST00000507475.6:n.542T>C
ENST00000511912.5:c.769T>C	ENSP00000426638.1:p.Tyr257His
ENST00000681978.1:n.1018T>C
ENST00000682178.1:n.1801T>C
ENST00000682345.1:c.*469T>C	ENSP00000508122.1:n.*469T>C
ENST00000682452.1:n.1100T>C
ENST00000682456.1:c.769T>C	ENSP00000508240.1:p.Tyr257His
ENST00000682566.1:n.265T>C
ENST00000682601.1:n.960T>C
ENST00000682613.1:n.1081T>C
ENST00000682734.1:c.-405T>C	ENSP00000507860.1:n.-405T>C
ENST00000682820.1:n.806T>C
ENST00000683004.1:c.*606T>C	ENSP00000506936.1:n.*606T>C
ENST00000683079.1:c.*149T>C	ENSP00000507296.1:n.*149T>C
ENST00000683081.1:c.*606T>C	ENSP00000507722.1:n.*606T>C
ENST00000683305.1:c.586T>C	ENSP00000508043.1:p.Tyr196His
ENST00000683448.1:c.274T>C	ENSP00000506931.1:p.Tyr92His
ENST00000683478.1:c.*149T>C	ENSP00000507793.1:n.*149T>C
ENST00000683483.1:c.769T>C	ENSP00000507719.1:p.Tyr257His
ENST00000683751.1:c.274T>C	ENSP00000506944.1:p.Tyr92His
ENST00000684036.1:c.586T>C	ENSP00000507276.1:p.Tyr196His
ENST00000684129.1:c.-450T>C	ENSP00000507174.1:n.-450T>C
ENST00000684209.1:n.1144T>C
ENST00000684296.1:c.769T>C	ENSP00000507740.1:p.Tyr257His
ENST00000684505.1:c.718T>C	ENSP00000508237.1:p.Tyr240His
ENST00000684552.1:c.769T>C	ENSP00000506899.1:p.Tyr257His
ENST00000684611.1:n.2497T>C
ENST00000684622.1:c.769T>C	ENSP00000507546.1:p.Tyr257His
ENST00000684627.1:c.586T>C	ENSP00000507471.1:p.Tyr196His
ENST00000684641.1:c.769T>C	ENSP00000507642.1:p.Tyr257His
ENST00000684675.1:c.769T>C	ENSP00000506934.1:p.Tyr257His
ENST00000684749.1:n.838T>C
XM_024453935.1:c.586T>C	XP_024309703.1:p.Tyr196His