Canonical Allele Identifier: CA3122650

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706674T>C , CM000666.2:g.158706674T>C	GRCh38
NC_000004.11:g.159627826T>C , CM000666.1:g.159627826T>C	GRCh37
NC_000004.10:g.159847276T>C	NCBI36
NG_007078.2:g.39333T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1514T>C MANE Select	NP_004444.2:p.Ile505Thr
ENST00000511912.6:c.1514T>C MANE Select	ENSP00000426638.1:p.Ile505Thr
NM_001281737.1:c.1373T>C	NP_001268666.1:p.Ile458Thr
NM_001281737.2:c.1373T>C	NP_001268666.1:p.Ile458Thr
NM_001281738.1:c.1331T>C	NP_001268667.1:p.Ile444Thr
NM_004453.3:c.1514T>C	NP_004444.2:p.Ile505Thr
ENST00000307738.5:c.1373T>C	ENSP00000303552.5:p.Ile458Thr
ENST00000506422.1:n.484T>C
ENST00000511912.5:c.1514T>C	ENSP00000426638.1:p.Ile505Thr
ENST00000681978.1:n.3050T>C
ENST00000682178.1:n.2546T>C
ENST00000682345.1:c.*1214T>C	ENSP00000508122.1:n.*1214T>C
ENST00000682452.1:n.1845T>C
ENST00000682456.1:c.1373T>C	ENSP00000508240.1:p.Ile458Thr
ENST00000682566.1:n.2297T>C
ENST00000682613.1:n.1826T>C
ENST00000682734.1:c.341T>C	ENSP00000507860.1:p.Ile114Thr
ENST00000682820.1:n.1551T>C
ENST00000683004.1:c.*1207T>C	ENSP00000506936.1:n.*1207T>C
ENST00000683079.1:c.*939T>C	ENSP00000507296.1:n.*939T>C
ENST00000683081.1:c.*1351T>C	ENSP00000507722.1:n.*1351T>C
ENST00000683181.1:n.793T>C
ENST00000683209.1:n.3840T>C
ENST00000683305.1:c.1331T>C	ENSP00000508043.1:p.Ile444Thr
ENST00000683448.1:c.*434T>C	ENSP00000506931.1:n.*434T>C
ENST00000683478.1:c.*865T>C	ENSP00000507793.1:n.*865T>C
ENST00000683483.1:c.1370T>C	ENSP00000507719.1:p.Ile457Thr
ENST00000683622.1:n.1228T>C
ENST00000683751.1:c.1019T>C	ENSP00000506944.1:p.Ile340Thr
ENST00000684036.1:c.1331T>C	ENSP00000507276.1:p.Ile444Thr
ENST00000684129.1:c.341T>C	ENSP00000507174.1:p.Ile114Thr
ENST00000684209.1:n.1889T>C
ENST00000684296.1:c.*434T>C	ENSP00000507740.1:n.*434T>C
ENST00000684505.1:c.1463T>C	ENSP00000508237.1:p.Ile488Thr
ENST00000684552.1:c.*2933T>C	ENSP00000506899.1:n.*2933T>C
ENST00000684611.1:n.3242T>C
ENST00000684622.1:c.1514T>C	ENSP00000507546.1:p.Ile505Thr
ENST00000684627.1:c.1331T>C	ENSP00000507471.1:p.Ile444Thr
ENST00000684641.1:c.1229T>C	ENSP00000507642.1:p.Ile410Thr
ENST00000684675.1:c.*361T>C	ENSP00000506934.1:n.*361T>C
ENST00000684749.1:n.1583T>C
XM_024453935.1:c.1331T>C	XP_024309703.1:p.Ile444Thr