Canonical Allele Identifier: CA358564051

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706277C>A , CM000666.2:g.158706277C>A	GRCh38
NC_000004.11:g.159627429C>A , CM000666.1:g.159627429C>A	GRCh37
NC_000004.10:g.159846879C>A	NCBI36
NG_007078.2:g.38936C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1374C>A MANE Select	NP_004444.2:p.Cys458Ter
ENST00000511912.6:c.1374C>A MANE Select	ENSP00000426638.1:p.Cys458Ter
NM_001281737.1:c.1233C>A	NP_001268666.1:p.Cys411Ter
NM_001281737.2:c.1233C>A	NP_001268666.1:p.Cys411Ter
NM_001281738.1:c.1191C>A	NP_001268667.1:p.Cys397Ter
NM_004453.3:c.1374C>A	NP_004444.2:p.Cys458Ter
ENST00000307738.5:c.1233C>A	ENSP00000303552.5:p.Cys411Ter
ENST00000506422.1:n.344C>A
ENST00000511912.5:c.1374C>A	ENSP00000426638.1:p.Cys458Ter
ENST00000681978.1:n.2910C>A
ENST00000682178.1:n.2406C>A
ENST00000682345.1:c.*1074C>A	ENSP00000508122.1:n.*1074C>A
ENST00000682452.1:n.1705C>A
ENST00000682456.1:c.1233C>A	ENSP00000508240.1:p.Cys411Ter
ENST00000682566.1:n.2157C>A
ENST00000682613.1:n.1686C>A
ENST00000682734.1:c.201C>A	ENSP00000507860.1:p.Cys67Ter
ENST00000682820.1:n.1411C>A
ENST00000683004.1:c.*1067C>A	ENSP00000506936.1:n.*1067C>A
ENST00000683079.1:c.*799C>A	ENSP00000507296.1:n.*799C>A
ENST00000683081.1:c.*1211C>A	ENSP00000507722.1:n.*1211C>A
ENST00000683181.1:n.653C>A
ENST00000683209.1:n.3700C>A
ENST00000683305.1:c.1191C>A	ENSP00000508043.1:p.Cys397Ter
ENST00000683448.1:c.*294C>A	ENSP00000506931.1:n.*294C>A
ENST00000683478.1:c.*725C>A	ENSP00000507793.1:n.*725C>A
ENST00000683483.1:c.1230C>A	ENSP00000507719.1:p.Cys410Ter
ENST00000683622.1:n.1088C>A
ENST00000683751.1:c.879C>A	ENSP00000506944.1:p.Cys293Ter
ENST00000684036.1:c.1191C>A	ENSP00000507276.1:p.Cys397Ter
ENST00000684129.1:c.201C>A	ENSP00000507174.1:p.Cys67Ter
ENST00000684209.1:n.1749C>A
ENST00000684296.1:c.*294C>A	ENSP00000507740.1:n.*294C>A
ENST00000684505.1:c.1323C>A	ENSP00000508237.1:p.Cys441Ter
ENST00000684552.1:c.*2793C>A	ENSP00000506899.1:n.*2793C>A
ENST00000684611.1:n.3102C>A
ENST00000684622.1:c.1374C>A	ENSP00000507546.1:p.Cys458Ter
ENST00000684627.1:c.1191C>A	ENSP00000507471.1:p.Cys397Ter
ENST00000684641.1:c.1089C>A	ENSP00000507642.1:p.Cys363Ter
ENST00000684675.1:c.*221C>A	ENSP00000506934.1:n.*221C>A
ENST00000684749.1:n.1443C>A
XM_024453935.1:c.1191C>A	XP_024309703.1:p.Cys397Ter