Canonical Allele Identifier: CA358565115

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706812C>A , CM000666.2:g.158706812C>A	GRCh38
NC_000004.11:g.159627964C>A , CM000666.1:g.159627964C>A	GRCh37
NC_000004.10:g.159847414C>A	NCBI36
NG_007078.2:g.39471C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1652C>A MANE Select	NP_004444.2:p.Ser551Ter
ENST00000511912.6:c.1652C>A MANE Select	ENSP00000426638.1:p.Ser551Ter
NM_001281737.1:c.1511C>A	NP_001268666.1:p.Ser504Ter
NM_001281737.2:c.1511C>A	NP_001268666.1:p.Ser504Ter
NM_001281738.1:c.1469C>A	NP_001268667.1:p.Ser490Ter
NM_004453.3:c.1652C>A	NP_004444.2:p.Ser551Ter
ENST00000307738.5:c.1511C>A	ENSP00000303552.5:p.Ser504Ter
ENST00000506422.1:n.622C>A
ENST00000511912.5:c.1652C>A	ENSP00000426638.1:p.Ser551Ter
ENST00000681978.1:n.3188C>A
ENST00000682178.1:n.2684C>A
ENST00000682345.1:c.*1352C>A	ENSP00000508122.1:n.*1352C>A
ENST00000682452.1:n.1983C>A
ENST00000682456.1:c.1511C>A	ENSP00000508240.1:p.Ser504Ter
ENST00000682566.1:n.2435C>A
ENST00000682613.1:n.1964C>A
ENST00000682734.1:c.479C>A	ENSP00000507860.1:p.Ser160Ter
ENST00000682820.1:n.1689C>A
ENST00000683004.1:c.*1345C>A	ENSP00000506936.1:n.*1345C>A
ENST00000683079.1:c.*1077C>A	ENSP00000507296.1:n.*1077C>A
ENST00000683081.1:c.*1489C>A	ENSP00000507722.1:n.*1489C>A
ENST00000683181.1:n.931C>A
ENST00000683209.1:n.3978C>A
ENST00000683305.1:c.1469C>A	ENSP00000508043.1:p.Ser490Ter
ENST00000683448.1:c.*572C>A	ENSP00000506931.1:n.*572C>A
ENST00000683478.1:c.*1003C>A	ENSP00000507793.1:n.*1003C>A
ENST00000683483.1:c.1508C>A	ENSP00000507719.1:p.Ser503Ter
ENST00000683622.1:n.1366C>A
ENST00000683751.1:c.1157C>A	ENSP00000506944.1:p.Ser386Ter
ENST00000684036.1:c.1469C>A	ENSP00000507276.1:p.Ser490Ter
ENST00000684129.1:c.479C>A	ENSP00000507174.1:p.Ser160Ter
ENST00000684209.1:n.2027C>A
ENST00000684296.1:c.*572C>A	ENSP00000507740.1:n.*572C>A
ENST00000684505.1:c.1601C>A	ENSP00000508237.1:p.Ser534Ter
ENST00000684552.1:c.*3071C>A	ENSP00000506899.1:n.*3071C>A
ENST00000684611.1:n.3380C>A
ENST00000684622.1:c.1652C>A	ENSP00000507546.1:p.Ser551Ter
ENST00000684627.1:c.1469C>A	ENSP00000507471.1:p.Ser490Ter
ENST00000684641.1:c.1367C>A	ENSP00000507642.1:p.Ser456Ter
ENST00000684675.1:c.*499C>A	ENSP00000506934.1:n.*499C>A
ENST00000684749.1:n.1721C>A
XM_024453935.1:c.1469C>A	XP_024309703.1:p.Ser490Ter