Canonical Allele Identifier: CA358563130

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703593T>G , CM000666.2:g.158703593T>G	GRCh38
NC_000004.11:g.159624745T>G , CM000666.1:g.159624745T>G	GRCh37
NC_000004.10:g.159844195T>G	NCBI36
NG_007078.2:g.36252T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1285+2T>G MANE Select	NP_004444.2:n.1285+2T>G
ENST00000511912.6:c.1285+2T>G MANE Select	ENSP00000426638.1:n.1285+2T>G
NM_001281737.1:c.1144+2T>G	NP_001268666.1:n.1144+2T>G
NM_001281737.2:c.1144+2T>G	NP_001268666.1:n.1144+2T>G
NM_001281738.1:c.1102+2T>G	NP_001268667.1:n.1102+2T>G
NM_004453.3:c.1285+2T>G	NP_004444.2:n.1285+2T>G
ENST00000307738.5:c.1144+2T>G	ENSP00000303552.5:n.1144+2T>G
ENST00000506422.1:n.255+2T>G
ENST00000511912.5:c.1285+2T>G	ENSP00000426638.1:n.1285+2T>G
ENST00000681978.1:n.2821+2T>G
ENST00000682178.1:n.2317+2T>G
ENST00000682345.1:c.*985+2T>G	ENSP00000508122.1:n.*985+2T>G
ENST00000682452.1:n.1616+2T>G
ENST00000682456.1:c.1144+2T>G	ENSP00000508240.1:n.1144+2T>G
ENST00000682566.1:n.2068+2T>G
ENST00000682613.1:n.1597+2T>G
ENST00000682734.1:c.112+2T>G	ENSP00000507860.1:n.112+2T>G
ENST00000682820.1:n.1322+2T>G
ENST00000683004.1:c.*978+2T>G	ENSP00000506936.1:n.*978+2T>G
ENST00000683079.1:c.*710+2T>G	ENSP00000507296.1:n.*710+2T>G
ENST00000683081.1:c.*1122+2T>G	ENSP00000507722.1:n.*1122+2T>G
ENST00000683181.1:n.564+2T>G
ENST00000683209.1:n.3611+2T>G
ENST00000683305.1:c.1102+2T>G	ENSP00000508043.1:n.1102+2T>G
ENST00000683448.1:c.*205+2T>G	ENSP00000506931.1:n.*205+2T>G
ENST00000683478.1:c.*636+2T>G	ENSP00000507793.1:n.*636+2T>G
ENST00000683483.1:c.1141+2T>G	ENSP00000507719.1:n.1141+2T>G
ENST00000683622.1:n.999+2T>G
ENST00000683751.1:c.790+2T>G	ENSP00000506944.1:n.790+2T>G
ENST00000684036.1:c.1102+2T>G	ENSP00000507276.1:n.1102+2T>G
ENST00000684129.1:c.112+2T>G	ENSP00000507174.1:n.112+2T>G
ENST00000684209.1:n.1660+2T>G
ENST00000684296.1:c.*205+2T>G	ENSP00000507740.1:n.*205+2T>G
ENST00000684505.1:c.1234+2T>G	ENSP00000508237.1:n.1234+2T>G
ENST00000684552.1:c.*205+2T>G	ENSP00000506899.1:n.*205+2T>G
ENST00000684611.1:n.3013+2T>G
ENST00000684622.1:c.1285+2T>G	ENSP00000507546.1:n.1285+2T>G
ENST00000684627.1:c.1102+2T>G	ENSP00000507471.1:n.1102+2T>G
ENST00000684641.1:c.1000+2T>G	ENSP00000507642.1:n.1000+2T>G
ENST00000684675.1:c.*132+2T>G	ENSP00000506934.1:n.*132+2T>G
ENST00000684749.1:n.1354+2T>G
XM_024453935.1:c.1102+2T>G	XP_024309703.1:n.1102+2T>G