Canonical Allele Identifier: CA358563759

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706228C>T , CM000666.2:g.158706228C>T	GRCh38
NC_000004.11:g.159627380C>T , CM000666.1:g.159627380C>T	GRCh37
NC_000004.10:g.159846830C>T	NCBI36
NG_007078.2:g.38887C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1325C>T MANE Select	NP_004444.2:p.Ser442Leu
ENST00000511912.6:c.1325C>T MANE Select	ENSP00000426638.1:p.Ser442Leu
NM_001281737.1:c.1184C>T	NP_001268666.1:p.Ser395Leu
NM_001281737.2:c.1184C>T	NP_001268666.1:p.Ser395Leu
NM_001281738.1:c.1142C>T	NP_001268667.1:p.Ser381Leu
NM_004453.3:c.1325C>T	NP_004444.2:p.Ser442Leu
ENST00000307738.5:c.1184C>T	ENSP00000303552.5:p.Ser395Leu
ENST00000506422.1:n.295C>T
ENST00000511912.5:c.1325C>T	ENSP00000426638.1:p.Ser442Leu
ENST00000681978.1:n.2861C>T
ENST00000682178.1:n.2357C>T
ENST00000682345.1:c.*1025C>T	ENSP00000508122.1:n.*1025C>T
ENST00000682452.1:n.1656C>T
ENST00000682456.1:c.1184C>T	ENSP00000508240.1:p.Ser395Leu
ENST00000682566.1:n.2108C>T
ENST00000682613.1:n.1637C>T
ENST00000682734.1:c.152C>T	ENSP00000507860.1:p.Ser51Leu
ENST00000682820.1:n.1362C>T
ENST00000683004.1:c.*1018C>T	ENSP00000506936.1:n.*1018C>T
ENST00000683079.1:c.*750C>T	ENSP00000507296.1:n.*750C>T
ENST00000683081.1:c.*1162C>T	ENSP00000507722.1:n.*1162C>T
ENST00000683181.1:n.604C>T
ENST00000683209.1:n.3651C>T
ENST00000683305.1:c.1142C>T	ENSP00000508043.1:p.Ser381Leu
ENST00000683448.1:c.*245C>T	ENSP00000506931.1:n.*245C>T
ENST00000683478.1:c.*676C>T	ENSP00000507793.1:n.*676C>T
ENST00000683483.1:c.1181C>T	ENSP00000507719.1:p.Ser394Leu
ENST00000683622.1:n.1039C>T
ENST00000683751.1:c.830C>T	ENSP00000506944.1:p.Ser277Leu
ENST00000684036.1:c.1142C>T	ENSP00000507276.1:p.Ser381Leu
ENST00000684129.1:c.152C>T	ENSP00000507174.1:p.Ser51Leu
ENST00000684209.1:n.1700C>T
ENST00000684296.1:c.*245C>T	ENSP00000507740.1:n.*245C>T
ENST00000684505.1:c.1274C>T	ENSP00000508237.1:p.Ser425Leu
ENST00000684552.1:c.*2744C>T	ENSP00000506899.1:n.*2744C>T
ENST00000684611.1:n.3053C>T
ENST00000684622.1:c.1325C>T	ENSP00000507546.1:p.Ser442Leu
ENST00000684627.1:c.1142C>T	ENSP00000507471.1:p.Ser381Leu
ENST00000684641.1:c.1040C>T	ENSP00000507642.1:p.Ser347Leu
ENST00000684675.1:c.*172C>T	ENSP00000506934.1:n.*172C>T
ENST00000684749.1:n.1394C>T
XM_024453935.1:c.1142C>T	XP_024309703.1:p.Ser381Leu