Canonical Allele Identifier: CA358560532

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158695496G>A , CM000666.2:g.158695496G>A	GRCh38
NC_000004.11:g.159616648G>A , CM000666.1:g.159616648G>A	GRCh37
NC_000004.10:g.159836098G>A	NCBI36
NG_007078.2:g.28155G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.685-1G>A MANE Select	NP_004444.2:n.685-1G>A
ENST00000511912.6:c.685-1G>A MANE Select	ENSP00000426638.1:n.685-1G>A
NM_001281737.1:c.544-1G>A	NP_001268666.1:n.544-1G>A
NM_001281737.2:c.544-1G>A	NP_001268666.1:n.544-1G>A
NM_001281738.1:c.502-1G>A	NP_001268667.1:n.502-1G>A
NM_004453.3:c.685-1G>A	NP_004444.2:n.685-1G>A
ENST00000307738.5:c.544-1G>A	ENSP00000303552.5:n.544-1G>A
ENST00000506422.1:n.87-7927G>A
ENST00000507475.5:c.190-1G>A	ENSP00000422735.1:n.190-1G>A
ENST00000507475.6:n.458-1G>A
ENST00000511912.5:c.685-1G>A	ENSP00000426638.1:n.685-1G>A
ENST00000681978.1:n.934-1G>A
ENST00000682178.1:n.1717-1G>A
ENST00000682345.1:c.*385-1G>A	ENSP00000508122.1:n.*385-1G>A
ENST00000682452.1:n.1016-1G>A
ENST00000682456.1:c.685-1G>A	ENSP00000508240.1:n.685-1G>A
ENST00000682566.1:n.180G>A
ENST00000682601.1:n.876-1G>A
ENST00000682613.1:n.996G>A
ENST00000682734.1:c.-489-1G>A	ENSP00000507860.1:n.-489-1G>A
ENST00000682820.1:n.722-1G>A
ENST00000683004.1:c.*522-1G>A	ENSP00000506936.1:n.*522-1G>A
ENST00000683079.1:c.*65-1G>A	ENSP00000507296.1:n.*65-1G>A
ENST00000683081.1:c.*522-1G>A	ENSP00000507722.1:n.*522-1G>A
ENST00000683305.1:c.502-1G>A	ENSP00000508043.1:n.502-1G>A
ENST00000683448.1:c.190-1G>A	ENSP00000506931.1:n.190-1G>A
ENST00000683478.1:c.*65-1G>A	ENSP00000507793.1:n.*65-1G>A
ENST00000683483.1:c.685-1G>A	ENSP00000507719.1:n.685-1G>A
ENST00000683751.1:c.190-1G>A	ENSP00000506944.1:n.190-1G>A
ENST00000684036.1:c.502-1G>A	ENSP00000507276.1:n.502-1G>A
ENST00000684129.1:c.-534-1G>A	ENSP00000507174.1:n.-534-1G>A
ENST00000684209.1:n.1060-1G>A
ENST00000684296.1:c.685-1G>A	ENSP00000507740.1:n.685-1G>A
ENST00000684505.1:c.634-1G>A	ENSP00000508237.1:n.634-1G>A
ENST00000684552.1:c.685-1G>A	ENSP00000506899.1:n.685-1G>A
ENST00000684611.1:n.2413-1G>A
ENST00000684622.1:c.685-1G>A	ENSP00000507546.1:n.685-1G>A
ENST00000684627.1:c.502-1G>A	ENSP00000507471.1:n.502-1G>A
ENST00000684641.1:c.685-1G>A	ENSP00000507642.1:n.685-1G>A
ENST00000684675.1:c.685-1G>A	ENSP00000506934.1:n.685-1G>A
ENST00000684749.1:n.754-1G>A
XM_024453935.1:c.502-1G>A	XP_024309703.1:n.502-1G>A