Canonical Allele Identifier: CA3122654

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706682C>A , CM000666.2:g.158706682C>A	GRCh38
NC_000004.11:g.159627834C>A , CM000666.1:g.159627834C>A	GRCh37
NC_000004.10:g.159847284C>A	NCBI36
NG_007078.2:g.39341C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1522C>A MANE Select	NP_004444.2:p.Pro508Thr
ENST00000511912.6:c.1522C>A MANE Select	ENSP00000426638.1:p.Pro508Thr
NM_001281737.1:c.1381C>A	NP_001268666.1:p.Pro461Thr
NM_001281737.2:c.1381C>A	NP_001268666.1:p.Pro461Thr
NM_001281738.1:c.1339C>A	NP_001268667.1:p.Pro447Thr
NM_004453.3:c.1522C>A	NP_004444.2:p.Pro508Thr
ENST00000307738.5:c.1381C>A	ENSP00000303552.5:p.Pro461Thr
ENST00000506422.1:n.492C>A
ENST00000511912.5:c.1522C>A	ENSP00000426638.1:p.Pro508Thr
ENST00000681978.1:n.3058C>A
ENST00000682178.1:n.2554C>A
ENST00000682345.1:c.*1222C>A	ENSP00000508122.1:n.*1222C>A
ENST00000682452.1:n.1853C>A
ENST00000682456.1:c.1381C>A	ENSP00000508240.1:p.Pro461Thr
ENST00000682566.1:n.2305C>A
ENST00000682613.1:n.1834C>A
ENST00000682734.1:c.349C>A	ENSP00000507860.1:p.Pro117Thr
ENST00000682820.1:n.1559C>A
ENST00000683004.1:c.*1215C>A	ENSP00000506936.1:n.*1215C>A
ENST00000683079.1:c.*947C>A	ENSP00000507296.1:n.*947C>A
ENST00000683081.1:c.*1359C>A	ENSP00000507722.1:n.*1359C>A
ENST00000683181.1:n.801C>A
ENST00000683209.1:n.3848C>A
ENST00000683305.1:c.1339C>A	ENSP00000508043.1:p.Pro447Thr
ENST00000683448.1:c.*442C>A	ENSP00000506931.1:n.*442C>A
ENST00000683478.1:c.*873C>A	ENSP00000507793.1:n.*873C>A
ENST00000683483.1:c.1378C>A	ENSP00000507719.1:p.Pro460Thr
ENST00000683622.1:n.1236C>A
ENST00000683751.1:c.1027C>A	ENSP00000506944.1:p.Pro343Thr
ENST00000684036.1:c.1339C>A	ENSP00000507276.1:p.Pro447Thr
ENST00000684129.1:c.349C>A	ENSP00000507174.1:p.Pro117Thr
ENST00000684209.1:n.1897C>A
ENST00000684296.1:c.*442C>A	ENSP00000507740.1:n.*442C>A
ENST00000684505.1:c.1471C>A	ENSP00000508237.1:p.Pro491Thr
ENST00000684552.1:c.*2941C>A	ENSP00000506899.1:n.*2941C>A
ENST00000684611.1:n.3250C>A
ENST00000684622.1:c.1522C>A	ENSP00000507546.1:p.Pro508Thr
ENST00000684627.1:c.1339C>A	ENSP00000507471.1:p.Pro447Thr
ENST00000684641.1:c.1237C>A	ENSP00000507642.1:p.Pro413Thr
ENST00000684675.1:c.*369C>A	ENSP00000506934.1:n.*369C>A
ENST00000684749.1:n.1591C>A
XM_024453935.1:c.1339C>A	XP_024309703.1:p.Pro447Thr