Canonical Allele Identifier: CA10581378

Gene: ETFDH

Linked Data

• ClinVar Variation Id: 235624
• ClinVar RCV Id: RCV000224819 ; RCV002519760
• dbSNP Id: rs878853082
• gnomAD v4: 4-158684648-C-G
• MyVariant Identifiers: chr4:g.159605800C>G (hg19) ; chr4:g.158684648C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158684648C>G , CM000666.2:g.158684648C>G	GRCh38
NC_000004.11:g.159605800C>G , CM000666.1:g.159605800C>G	GRCh37
NC_000004.10:g.159825250C>G	NCBI36
NG_007078.2:g.17307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507475.6:n.235C>G
ENST00000681978.1:n.711C>G
ENST00000682178.1:n.1494C>G
ENST00000682345.1:c.*281C>G	ENSP00000508122.1:n.*281C>G
ENST00000682452.1:n.793C>G
ENST00000682456.1:c.462C>G	ENSP00000508240.1:p.Tyr154Ter
ENST00000682601.1:n.653C>G
ENST00000682734.1:c.-593C>G	ENSP00000507860.1:n.-593C>G
ENST00000682820.1:n.499C>G
ENST00000682910.1:n.769C>G
ENST00000683004.1:c.*299C>G	ENSP00000506936.1:n.*299C>G
ENST00000683079.1:c.462C>G	ENSP00000507296.1:p.Tyr154Ter
ENST00000683081.1:c.*299C>G	ENSP00000507722.1:n.*299C>G
ENST00000683123.1:n.84C>G
ENST00000683305.1:c.279C>G	ENSP00000508043.1:p.Tyr93Ter
ENST00000683448.1:c.-34C>G	ENSP00000506931.1:n.-34C>G
ENST00000683478.1:c.462C>G	ENSP00000507793.1:p.Tyr154Ter
ENST00000683483.1:c.462C>G	ENSP00000507719.1:p.Tyr154Ter
ENST00000683750.1:n.585C>G
ENST00000683751.1:c.-34C>G	ENSP00000506944.1:n.-34C>G
ENST00000684036.1:c.279C>G	ENSP00000507276.1:p.Tyr93Ter
ENST00000684129.1:c.-638C>G	ENSP00000507174.1:n.-638C>G
ENST00000684209.1:n.702C>G
ENST00000684296.1:c.462C>G	ENSP00000507740.1:p.Tyr154Ter
ENST00000684505.1:c.462C>G	ENSP00000508237.1:p.Tyr154Ter
ENST00000684552.1:c.462C>G	ENSP00000506899.1:p.Tyr154Ter
ENST00000684611.1:n.2190C>G
ENST00000684622.1:c.462C>G	ENSP00000507546.1:p.Tyr154Ter
ENST00000684627.1:c.279C>G	ENSP00000507471.1:p.Tyr93Ter
ENST00000684641.1:c.462C>G	ENSP00000507642.1:p.Tyr154Ter
ENST00000684675.1:c.462C>G	ENSP00000506934.1:p.Tyr154Ter
ENST00000684749.1:n.531C>G
ENST00000511912.6:c.462C>G MANE Select	ENSP00000426638.1:p.Tyr154Ter
ENST00000307738.5:c.321C>G	ENSP00000303552.5:p.Tyr107Ter
ENST00000506422.1:n.86+12158C>G
ENST00000507475.5:c.-34C>G	ENSP00000422735.1:n.-34C>G
ENST00000511912.5:c.462C>G	ENSP00000426638.1:p.Tyr154Ter
ENST00000514148.1:n.540C>G
NM_001281737.1:c.321C>G	NP_001268666.1:p.Tyr107Ter
NM_001281738.1:c.279C>G	NP_001268667.1:p.Tyr93Ter
NM_004453.3:c.462C>G	NP_004444.2:p.Tyr154Ter
XM_024453935.1:c.279C>G	XP_024309703.1:p.Tyr93Ter
NM_004453.4:c.462C>G MANE Select	NP_004444.2:p.Tyr154Ter
NM_001281737.2:c.321C>G	NP_001268666.1:p.Tyr107Ter