Canonical Allele Identifier: CA358560742

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158695543T>C , CM000666.2:g.158695543T>C	GRCh38
NC_000004.11:g.159616695T>C , CM000666.1:g.159616695T>C	GRCh37
NC_000004.10:g.159836145T>C	NCBI36
NG_007078.2:g.28202T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.731T>C MANE Select	NP_004444.2:p.Phe244Ser
ENST00000511912.6:c.731T>C MANE Select	ENSP00000426638.1:p.Phe244Ser
NM_001281737.1:c.590T>C	NP_001268666.1:p.Phe197Ser
NM_001281737.2:c.590T>C	NP_001268666.1:p.Phe197Ser
NM_001281738.1:c.548T>C	NP_001268667.1:p.Phe183Ser
NM_004453.3:c.731T>C	NP_004444.2:p.Phe244Ser
ENST00000307738.5:c.590T>C	ENSP00000303552.5:p.Phe197Ser
ENST00000506422.1:n.87-7880T>C
ENST00000507475.5:c.236T>C	ENSP00000422735.1:p.Phe79Ser
ENST00000507475.6:n.504T>C
ENST00000511912.5:c.731T>C	ENSP00000426638.1:p.Phe244Ser
ENST00000681978.1:n.980T>C
ENST00000682178.1:n.1763T>C
ENST00000682345.1:c.*431T>C	ENSP00000508122.1:n.*431T>C
ENST00000682452.1:n.1062T>C
ENST00000682456.1:c.731T>C	ENSP00000508240.1:p.Phe244Ser
ENST00000682566.1:n.227T>C
ENST00000682601.1:n.922T>C
ENST00000682613.1:n.1043T>C
ENST00000682734.1:c.-443T>C	ENSP00000507860.1:n.-443T>C
ENST00000682820.1:n.768T>C
ENST00000683004.1:c.*568T>C	ENSP00000506936.1:n.*568T>C
ENST00000683079.1:c.*111T>C	ENSP00000507296.1:n.*111T>C
ENST00000683081.1:c.*568T>C	ENSP00000507722.1:n.*568T>C
ENST00000683305.1:c.548T>C	ENSP00000508043.1:p.Phe183Ser
ENST00000683448.1:c.236T>C	ENSP00000506931.1:p.Phe79Ser
ENST00000683478.1:c.*111T>C	ENSP00000507793.1:n.*111T>C
ENST00000683483.1:c.731T>C	ENSP00000507719.1:p.Phe244Ser
ENST00000683751.1:c.236T>C	ENSP00000506944.1:p.Phe79Ser
ENST00000684036.1:c.548T>C	ENSP00000507276.1:p.Phe183Ser
ENST00000684129.1:c.-488T>C	ENSP00000507174.1:n.-488T>C
ENST00000684209.1:n.1106T>C
ENST00000684296.1:c.731T>C	ENSP00000507740.1:p.Phe244Ser
ENST00000684505.1:c.680T>C	ENSP00000508237.1:p.Phe227Ser
ENST00000684552.1:c.731T>C	ENSP00000506899.1:p.Phe244Ser
ENST00000684611.1:n.2459T>C
ENST00000684622.1:c.731T>C	ENSP00000507546.1:p.Phe244Ser
ENST00000684627.1:c.548T>C	ENSP00000507471.1:p.Phe183Ser
ENST00000684641.1:c.731T>C	ENSP00000507642.1:p.Phe244Ser
ENST00000684675.1:c.731T>C	ENSP00000506934.1:p.Phe244Ser
ENST00000684749.1:n.800T>C
XM_024453935.1:c.548T>C	XP_024309703.1:p.Phe183Ser