Canonical Allele Identifier: CA358564612

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706353T>C , CM000666.2:g.158706353T>C	GRCh38
NC_000004.11:g.159627505T>C , CM000666.1:g.159627505T>C	GRCh37
NC_000004.10:g.159846955T>C	NCBI36
NG_007078.2:g.39012T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1450T>C MANE Select	NP_004444.2:p.Trp484Arg
ENST00000511912.6:c.1450T>C MANE Select	ENSP00000426638.1:p.Trp484Arg
NM_001281737.1:c.1309T>C	NP_001268666.1:p.Trp437Arg
NM_001281737.2:c.1309T>C	NP_001268666.1:p.Trp437Arg
NM_001281738.1:c.1267T>C	NP_001268667.1:p.Trp423Arg
NM_004453.3:c.1450T>C	NP_004444.2:p.Trp484Arg
ENST00000307738.5:c.1309T>C	ENSP00000303552.5:p.Trp437Arg
ENST00000506422.1:n.420T>C
ENST00000511912.5:c.1450T>C	ENSP00000426638.1:p.Trp484Arg
ENST00000681978.1:n.2986T>C
ENST00000682178.1:n.2482T>C
ENST00000682345.1:c.*1150T>C	ENSP00000508122.1:n.*1150T>C
ENST00000682452.1:n.1781T>C
ENST00000682456.1:c.1309T>C	ENSP00000508240.1:p.Trp437Arg
ENST00000682566.1:n.2233T>C
ENST00000682613.1:n.1762T>C
ENST00000682734.1:c.277T>C	ENSP00000507860.1:p.Trp93Arg
ENST00000682820.1:n.1487T>C
ENST00000683004.1:c.*1143T>C	ENSP00000506936.1:n.*1143T>C
ENST00000683079.1:c.*875T>C	ENSP00000507296.1:n.*875T>C
ENST00000683081.1:c.*1287T>C	ENSP00000507722.1:n.*1287T>C
ENST00000683181.1:n.729T>C
ENST00000683209.1:n.3776T>C
ENST00000683305.1:c.1267T>C	ENSP00000508043.1:p.Trp423Arg
ENST00000683448.1:c.*370T>C	ENSP00000506931.1:n.*370T>C
ENST00000683478.1:c.*801T>C	ENSP00000507793.1:n.*801T>C
ENST00000683483.1:c.1306T>C	ENSP00000507719.1:p.Trp436Arg
ENST00000683622.1:n.1164T>C
ENST00000683751.1:c.955T>C	ENSP00000506944.1:p.Trp319Arg
ENST00000684036.1:c.1267T>C	ENSP00000507276.1:p.Trp423Arg
ENST00000684129.1:c.277T>C	ENSP00000507174.1:p.Trp93Arg
ENST00000684209.1:n.1825T>C
ENST00000684296.1:c.*370T>C	ENSP00000507740.1:n.*370T>C
ENST00000684505.1:c.1399T>C	ENSP00000508237.1:p.Trp467Arg
ENST00000684552.1:c.*2869T>C	ENSP00000506899.1:n.*2869T>C
ENST00000684611.1:n.3178T>C
ENST00000684622.1:c.1450T>C	ENSP00000507546.1:p.Trp484Arg
ENST00000684627.1:c.1267T>C	ENSP00000507471.1:p.Trp423Arg
ENST00000684641.1:c.1165T>C	ENSP00000507642.1:p.Trp389Arg
ENST00000684675.1:c.*297T>C	ENSP00000506934.1:n.*297T>C
ENST00000684749.1:n.1519T>C
XM_024453935.1:c.1267T>C	XP_024309703.1:p.Trp423Arg