Canonical Allele Identifier: CA358564668

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706628G>T , CM000666.2:g.158706628G>T	GRCh38
NC_000004.11:g.159627780G>T , CM000666.1:g.159627780G>T	GRCh37
NC_000004.10:g.159847230G>T	NCBI36
NG_007078.2:g.39287G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1469-1G>T MANE Select	NP_004444.2:n.1469-1G>T
ENST00000511912.6:c.1469-1G>T MANE Select	ENSP00000426638.1:n.1469-1G>T
NM_001281737.1:c.1328-1G>T	NP_001268666.1:n.1328-1G>T
NM_001281737.2:c.1328-1G>T	NP_001268666.1:n.1328-1G>T
NM_001281738.1:c.1286-1G>T	NP_001268667.1:n.1286-1G>T
NM_004453.3:c.1469-1G>T	NP_004444.2:n.1469-1G>T
ENST00000307738.5:c.1328-1G>T	ENSP00000303552.5:n.1328-1G>T
ENST00000506422.1:n.439-1G>T
ENST00000511912.5:c.1469-1G>T	ENSP00000426638.1:n.1469-1G>T
ENST00000681978.1:n.3005-1G>T
ENST00000682178.1:n.2501-1G>T
ENST00000682345.1:c.*1169-1G>T	ENSP00000508122.1:n.*1169-1G>T
ENST00000682452.1:n.1800-1G>T
ENST00000682456.1:c.1328-1G>T	ENSP00000508240.1:n.1328-1G>T
ENST00000682566.1:n.2252-1G>T
ENST00000682613.1:n.1781-1G>T
ENST00000682734.1:c.296-1G>T	ENSP00000507860.1:n.296-1G>T
ENST00000682820.1:n.1506-1G>T
ENST00000683004.1:c.*1162-1G>T	ENSP00000506936.1:n.*1162-1G>T
ENST00000683079.1:c.*894-1G>T	ENSP00000507296.1:n.*894-1G>T
ENST00000683081.1:c.*1306-1G>T	ENSP00000507722.1:n.*1306-1G>T
ENST00000683181.1:n.748-1G>T
ENST00000683209.1:n.3795-1G>T
ENST00000683305.1:c.1286-1G>T	ENSP00000508043.1:n.1286-1G>T
ENST00000683448.1:c.*389-1G>T	ENSP00000506931.1:n.*389-1G>T
ENST00000683478.1:c.*820-1G>T	ENSP00000507793.1:n.*820-1G>T
ENST00000683483.1:c.1325-1G>T	ENSP00000507719.1:n.1325-1G>T
ENST00000683622.1:n.1183-1G>T
ENST00000683751.1:c.974-1G>T	ENSP00000506944.1:n.974-1G>T
ENST00000684036.1:c.1286-1G>T	ENSP00000507276.1:n.1286-1G>T
ENST00000684129.1:c.296-1G>T	ENSP00000507174.1:n.296-1G>T
ENST00000684209.1:n.1844-1G>T
ENST00000684296.1:c.*389-1G>T	ENSP00000507740.1:n.*389-1G>T
ENST00000684505.1:c.1418-1G>T	ENSP00000508237.1:n.1418-1G>T
ENST00000684552.1:c.*2888-1G>T	ENSP00000506899.1:n.*2888-1G>T
ENST00000684611.1:n.3197-1G>T
ENST00000684622.1:c.1469-1G>T	ENSP00000507546.1:n.1469-1G>T
ENST00000684627.1:c.1286-1G>T	ENSP00000507471.1:n.1286-1G>T
ENST00000684641.1:c.1184-1G>T	ENSP00000507642.1:n.1184-1G>T
ENST00000684675.1:c.*316-1G>T	ENSP00000506934.1:n.*316-1G>T
ENST00000684749.1:n.1538-1G>T
XM_024453935.1:c.1286-1G>T	XP_024309703.1:n.1286-1G>T