Canonical Allele Identifier: CA358566436

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708390C>T , CM000666.2:g.158708390C>T	GRCh38
NC_000004.11:g.159629542C>T , CM000666.1:g.159629542C>T	GRCh37
NC_000004.10:g.159848992C>T	NCBI36
NG_007078.2:g.41049C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1717C>T MANE Select	NP_004444.2:p.Gln573Ter
ENST00000511912.6:c.1717C>T MANE Select	ENSP00000426638.1:p.Gln573Ter
NM_001281737.1:c.1576C>T	NP_001268666.1:p.Gln526Ter
NM_001281737.2:c.1576C>T	NP_001268666.1:p.Gln526Ter
NM_001281738.1:c.1534C>T	NP_001268667.1:p.Gln512Ter
NM_004453.3:c.1717C>T	NP_004444.2:p.Gln573Ter
ENST00000307738.5:c.1576C>T	ENSP00000303552.5:p.Gln526Ter
ENST00000506422.1:n.687C>T
ENST00000511912.5:c.1717C>T	ENSP00000426638.1:p.Gln573Ter
ENST00000681978.1:n.3253C>T
ENST00000682178.1:n.2749C>T
ENST00000682345.1:c.*1417C>T	ENSP00000508122.1:n.*1417C>T
ENST00000682452.1:n.2048C>T
ENST00000682456.1:c.1576C>T	ENSP00000508240.1:p.Gln526Ter
ENST00000682566.1:n.2500C>T
ENST00000682613.1:n.2029C>T
ENST00000682734.1:c.544C>T	ENSP00000507860.1:p.Gln182Ter
ENST00000682820.1:n.1754C>T
ENST00000683004.1:c.*1410C>T	ENSP00000506936.1:n.*1410C>T
ENST00000683079.1:c.*1142C>T	ENSP00000507296.1:n.*1142C>T
ENST00000683081.1:c.*1554C>T	ENSP00000507722.1:n.*1554C>T
ENST00000683181.1:n.996C>T
ENST00000683209.1:n.4043C>T
ENST00000683305.1:c.1534C>T	ENSP00000508043.1:p.Gln512Ter
ENST00000683448.1:c.*637C>T	ENSP00000506931.1:n.*637C>T
ENST00000683478.1:c.*1068C>T	ENSP00000507793.1:n.*1068C>T
ENST00000683483.1:c.1573C>T	ENSP00000507719.1:p.Gln525Ter
ENST00000683622.1:n.2944C>T
ENST00000683751.1:c.1222C>T	ENSP00000506944.1:p.Gln408Ter
ENST00000684036.1:c.1534C>T	ENSP00000507276.1:p.Gln512Ter
ENST00000684129.1:c.544C>T	ENSP00000507174.1:p.Gln182Ter
ENST00000684209.1:n.2092C>T
ENST00000684296.1:c.*637C>T	ENSP00000507740.1:n.*637C>T
ENST00000684505.1:c.1666C>T	ENSP00000508237.1:p.Gln556Ter
ENST00000684552.1:c.*3136C>T	ENSP00000506899.1:n.*3136C>T
ENST00000684611.1:n.3445C>T
ENST00000684622.1:c.*77C>T	ENSP00000507546.1:n.*77C>T
ENST00000684627.1:c.1534C>T	ENSP00000507471.1:p.Gln512Ter
ENST00000684641.1:c.1432C>T	ENSP00000507642.1:p.Gln478Ter
ENST00000684675.1:c.*564C>T	ENSP00000506934.1:n.*564C>T
ENST00000684749.1:n.1786C>T
XM_024453935.1:c.1534C>T	XP_024309703.1:p.Gln512Ter