Canonical Allele Identifier: CA358566893

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708484T>A , CM000666.2:g.158708484T>A	GRCh38
NC_000004.11:g.159629636T>A , CM000666.1:g.159629636T>A	GRCh37
NC_000004.10:g.159849086T>A	NCBI36
NG_007078.2:g.41143T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1811T>A MANE Select	NP_004444.2:p.Val604Glu
ENST00000511912.6:c.1811T>A MANE Select	ENSP00000426638.1:p.Val604Glu
NM_001281737.1:c.1670T>A	NP_001268666.1:p.Val557Glu
NM_001281737.2:c.1670T>A	NP_001268666.1:p.Val557Glu
NM_001281738.1:c.1628T>A	NP_001268667.1:p.Val543Glu
NM_004453.3:c.1811T>A	NP_004444.2:p.Val604Glu
ENST00000307738.5:c.1670T>A	ENSP00000303552.5:p.Val557Glu
ENST00000506422.1:n.781T>A
ENST00000511912.5:c.1811T>A	ENSP00000426638.1:p.Val604Glu
ENST00000681978.1:n.3347T>A
ENST00000682178.1:n.2843T>A
ENST00000682345.1:c.*1511T>A	ENSP00000508122.1:n.*1511T>A
ENST00000682452.1:n.2142T>A
ENST00000682456.1:c.1670T>A	ENSP00000508240.1:p.Val557Glu
ENST00000682566.1:n.2594T>A
ENST00000682613.1:n.2123T>A
ENST00000682734.1:c.638T>A	ENSP00000507860.1:p.Val213Glu
ENST00000682820.1:n.1848T>A
ENST00000683004.1:c.*1504T>A	ENSP00000506936.1:n.*1504T>A
ENST00000683079.1:c.*1236T>A	ENSP00000507296.1:n.*1236T>A
ENST00000683081.1:c.*1648T>A	ENSP00000507722.1:n.*1648T>A
ENST00000683181.1:n.1090T>A
ENST00000683209.1:n.4137T>A
ENST00000683305.1:c.1628T>A	ENSP00000508043.1:p.Val543Glu
ENST00000683448.1:c.*731T>A	ENSP00000506931.1:n.*731T>A
ENST00000683478.1:c.*1162T>A	ENSP00000507793.1:n.*1162T>A
ENST00000683483.1:c.1667T>A	ENSP00000507719.1:p.Val556Glu
ENST00000683622.1:n.3038T>A
ENST00000683751.1:c.1316T>A	ENSP00000506944.1:p.Val439Glu
ENST00000684036.1:c.1628T>A	ENSP00000507276.1:p.Val543Glu
ENST00000684129.1:c.638T>A	ENSP00000507174.1:p.Val213Glu
ENST00000684209.1:n.2186T>A
ENST00000684296.1:c.*731T>A	ENSP00000507740.1:n.*731T>A
ENST00000684505.1:c.1760T>A	ENSP00000508237.1:p.Val587Glu
ENST00000684552.1:c.*3230T>A	ENSP00000506899.1:n.*3230T>A
ENST00000684611.1:n.3539T>A
ENST00000684622.1:c.*171T>A	ENSP00000507546.1:n.*171T>A
ENST00000684627.1:c.1628T>A	ENSP00000507471.1:p.Val543Glu
ENST00000684641.1:c.1526T>A	ENSP00000507642.1:p.Val509Glu
ENST00000684675.1:c.*658T>A	ENSP00000506934.1:n.*658T>A
ENST00000684749.1:n.1880T>A
XM_024453935.1:c.1628T>A	XP_024309703.1:p.Val543Glu