Canonical Allele Identifier: CA358563808

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706236T>C , CM000666.2:g.158706236T>C	GRCh38
NC_000004.11:g.159627388T>C , CM000666.1:g.159627388T>C	GRCh37
NC_000004.10:g.159846838T>C	NCBI36
NG_007078.2:g.38895T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1333T>C MANE Select	NP_004444.2:p.Trp445Arg
ENST00000511912.6:c.1333T>C MANE Select	ENSP00000426638.1:p.Trp445Arg
NM_001281737.1:c.1192T>C	NP_001268666.1:p.Trp398Arg
NM_001281737.2:c.1192T>C	NP_001268666.1:p.Trp398Arg
NM_001281738.1:c.1150T>C	NP_001268667.1:p.Trp384Arg
NM_004453.3:c.1333T>C	NP_004444.2:p.Trp445Arg
ENST00000307738.5:c.1192T>C	ENSP00000303552.5:p.Trp398Arg
ENST00000506422.1:n.303T>C
ENST00000511912.5:c.1333T>C	ENSP00000426638.1:p.Trp445Arg
ENST00000681978.1:n.2869T>C
ENST00000682178.1:n.2365T>C
ENST00000682345.1:c.*1033T>C	ENSP00000508122.1:n.*1033T>C
ENST00000682452.1:n.1664T>C
ENST00000682456.1:c.1192T>C	ENSP00000508240.1:p.Trp398Arg
ENST00000682566.1:n.2116T>C
ENST00000682613.1:n.1645T>C
ENST00000682734.1:c.160T>C	ENSP00000507860.1:p.Trp54Arg
ENST00000682820.1:n.1370T>C
ENST00000683004.1:c.*1026T>C	ENSP00000506936.1:n.*1026T>C
ENST00000683079.1:c.*758T>C	ENSP00000507296.1:n.*758T>C
ENST00000683081.1:c.*1170T>C	ENSP00000507722.1:n.*1170T>C
ENST00000683181.1:n.612T>C
ENST00000683209.1:n.3659T>C
ENST00000683305.1:c.1150T>C	ENSP00000508043.1:p.Trp384Arg
ENST00000683448.1:c.*253T>C	ENSP00000506931.1:n.*253T>C
ENST00000683478.1:c.*684T>C	ENSP00000507793.1:n.*684T>C
ENST00000683483.1:c.1189T>C	ENSP00000507719.1:p.Trp397Arg
ENST00000683622.1:n.1047T>C
ENST00000683751.1:c.838T>C	ENSP00000506944.1:p.Trp280Arg
ENST00000684036.1:c.1150T>C	ENSP00000507276.1:p.Trp384Arg
ENST00000684129.1:c.160T>C	ENSP00000507174.1:p.Trp54Arg
ENST00000684209.1:n.1708T>C
ENST00000684296.1:c.*253T>C	ENSP00000507740.1:n.*253T>C
ENST00000684505.1:c.1282T>C	ENSP00000508237.1:p.Trp428Arg
ENST00000684552.1:c.*2752T>C	ENSP00000506899.1:n.*2752T>C
ENST00000684611.1:n.3061T>C
ENST00000684622.1:c.1333T>C	ENSP00000507546.1:p.Trp445Arg
ENST00000684627.1:c.1150T>C	ENSP00000507471.1:p.Trp384Arg
ENST00000684641.1:c.1048T>C	ENSP00000507642.1:p.Trp350Arg
ENST00000684675.1:c.*180T>C	ENSP00000506934.1:n.*180T>C
ENST00000684749.1:n.1402T>C
XM_024453935.1:c.1150T>C	XP_024309703.1:p.Trp384Arg