Canonical Allele Identifier: CA358565167

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706826C>T , CM000666.2:g.158706826C>T	GRCh38
NC_000004.11:g.159627978C>T , CM000666.1:g.159627978C>T	GRCh37
NC_000004.10:g.159847428C>T	NCBI36
NG_007078.2:g.39485C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1666C>T MANE Select	NP_004444.2:p.Pro556Ser
ENST00000511912.6:c.1666C>T MANE Select	ENSP00000426638.1:p.Pro556Ser
NM_001281737.1:c.1525C>T	NP_001268666.1:p.Pro509Ser
NM_001281737.2:c.1525C>T	NP_001268666.1:p.Pro509Ser
NM_001281738.1:c.1483C>T	NP_001268667.1:p.Pro495Ser
NM_004453.3:c.1666C>T	NP_004444.2:p.Pro556Ser
ENST00000307738.5:c.1525C>T	ENSP00000303552.5:p.Pro509Ser
ENST00000506422.1:n.636C>T
ENST00000511912.5:c.1666C>T	ENSP00000426638.1:p.Pro556Ser
ENST00000681978.1:n.3202C>T
ENST00000682178.1:n.2698C>T
ENST00000682345.1:c.*1366C>T	ENSP00000508122.1:n.*1366C>T
ENST00000682452.1:n.1997C>T
ENST00000682456.1:c.1525C>T	ENSP00000508240.1:p.Pro509Ser
ENST00000682566.1:n.2449C>T
ENST00000682613.1:n.1978C>T
ENST00000682734.1:c.493C>T	ENSP00000507860.1:p.Pro165Ser
ENST00000682820.1:n.1703C>T
ENST00000683004.1:c.*1359C>T	ENSP00000506936.1:n.*1359C>T
ENST00000683079.1:c.*1091C>T	ENSP00000507296.1:n.*1091C>T
ENST00000683081.1:c.*1503C>T	ENSP00000507722.1:n.*1503C>T
ENST00000683181.1:n.945C>T
ENST00000683209.1:n.3992C>T
ENST00000683305.1:c.1483C>T	ENSP00000508043.1:p.Pro495Ser
ENST00000683448.1:c.*586C>T	ENSP00000506931.1:n.*586C>T
ENST00000683478.1:c.*1017C>T	ENSP00000507793.1:n.*1017C>T
ENST00000683483.1:c.1522C>T	ENSP00000507719.1:p.Pro508Ser
ENST00000683622.1:n.1380C>T
ENST00000683751.1:c.1171C>T	ENSP00000506944.1:p.Pro391Ser
ENST00000684036.1:c.1483C>T	ENSP00000507276.1:p.Pro495Ser
ENST00000684129.1:c.493C>T	ENSP00000507174.1:p.Pro165Ser
ENST00000684209.1:n.2041C>T
ENST00000684296.1:c.*586C>T	ENSP00000507740.1:n.*586C>T
ENST00000684505.1:c.1615C>T	ENSP00000508237.1:p.Pro539Ser
ENST00000684552.1:c.*3085C>T	ENSP00000506899.1:n.*3085C>T
ENST00000684611.1:n.3394C>T
ENST00000684622.1:c.1666C>T	ENSP00000507546.1:p.Pro556Ser
ENST00000684627.1:c.1483C>T	ENSP00000507471.1:p.Pro495Ser
ENST00000684641.1:c.1381C>T	ENSP00000507642.1:p.Pro461Ser
ENST00000684675.1:c.*513C>T	ENSP00000506934.1:n.*513C>T
ENST00000684749.1:n.1735C>T
XM_024453935.1:c.1483C>T	XP_024309703.1:p.Pro495Ser