Canonical Allele Identifier: CA358575254

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158685100G>T , CM000666.2:g.158685100G>T	GRCh38
NC_000004.11:g.159606252G>T , CM000666.1:g.159606252G>T	GRCh37
NC_000004.10:g.159825702G>T	NCBI36
NG_007078.2:g.17759G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.488-1G>T MANE Select	NP_004444.2:n.488-1G>T
ENST00000511912.6:c.488-1G>T MANE Select	ENSP00000426638.1:n.488-1G>T
NM_001281737.1:c.347-1G>T	NP_001268666.1:n.347-1G>T
NM_001281737.2:c.347-1G>T	NP_001268666.1:n.347-1G>T
NM_001281738.1:c.305-1G>T	NP_001268667.1:n.305-1G>T
NM_004453.3:c.488-1G>T	NP_004444.2:n.488-1G>T
ENST00000307738.5:c.347-1G>T	ENSP00000303552.5:n.347-1G>T
ENST00000506422.1:n.86+12610G>T
ENST00000507475.5:c.-8-1G>T	ENSP00000422735.1:n.-8-1G>T
ENST00000507475.6:n.261-1G>T
ENST00000511912.5:c.488-1G>T	ENSP00000426638.1:n.488-1G>T
ENST00000681978.1:n.737-1G>T
ENST00000682178.1:n.1520-1G>T
ENST00000682345.1:c.*306+427G>T	ENSP00000508122.1:n.*306+427G>T
ENST00000682452.1:n.819-1G>T
ENST00000682456.1:c.488-1G>T	ENSP00000508240.1:n.488-1G>T
ENST00000682601.1:n.679-1G>T
ENST00000682734.1:c.-568+427G>T	ENSP00000507860.1:n.-568+427G>T
ENST00000682820.1:n.525-1G>T
ENST00000682910.1:n.795-1G>T
ENST00000683004.1:c.*325-1G>T	ENSP00000506936.1:n.*325-1G>T
ENST00000683079.1:c.487+427G>T	ENSP00000507296.1:n.487+427G>T
ENST00000683081.1:c.*325-1G>T	ENSP00000507722.1:n.*325-1G>T
ENST00000683123.1:n.536G>T
ENST00000683305.1:c.305-1G>T	ENSP00000508043.1:n.305-1G>T
ENST00000683448.1:c.-8-1G>T	ENSP00000506931.1:n.-8-1G>T
ENST00000683478.1:c.487+427G>T	ENSP00000507793.1:n.487+427G>T
ENST00000683483.1:c.488-1G>T	ENSP00000507719.1:n.488-1G>T
ENST00000683750.1:n.611-1G>T
ENST00000683751.1:c.-8-1G>T	ENSP00000506944.1:n.-8-1G>T
ENST00000684036.1:c.305-1G>T	ENSP00000507276.1:n.305-1G>T
ENST00000684129.1:c.-613+427G>T	ENSP00000507174.1:n.-613+427G>T
ENST00000684209.1:n.728-1G>T
ENST00000684296.1:c.488-1G>T	ENSP00000507740.1:n.488-1G>T
ENST00000684505.1:c.488-52G>T	ENSP00000508237.1:n.488-52G>T
ENST00000684552.1:c.488-1G>T	ENSP00000506899.1:n.488-1G>T
ENST00000684611.1:n.2216-1G>T
ENST00000684622.1:c.488-1G>T	ENSP00000507546.1:n.488-1G>T
ENST00000684627.1:c.305-1G>T	ENSP00000507471.1:n.305-1G>T
ENST00000684641.1:c.488-1G>T	ENSP00000507642.1:n.488-1G>T
ENST00000684675.1:c.488-1G>T	ENSP00000506934.1:n.488-1G>T
ENST00000684749.1:n.557-1G>T
XM_024453935.1:c.305-1G>T	XP_024309703.1:n.305-1G>T