Canonical Allele Identifier: CA358564837

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706707T>C , CM000666.2:g.158706707T>C	GRCh38
NC_000004.11:g.159627859T>C , CM000666.1:g.159627859T>C	GRCh37
NC_000004.10:g.159847309T>C	NCBI36
NG_007078.2:g.39366T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1547T>C MANE Select	NP_004444.2:p.Phe516Ser
ENST00000511912.6:c.1547T>C MANE Select	ENSP00000426638.1:p.Phe516Ser
NM_001281737.1:c.1406T>C	NP_001268666.1:p.Phe469Ser
NM_001281737.2:c.1406T>C	NP_001268666.1:p.Phe469Ser
NM_001281738.1:c.1364T>C	NP_001268667.1:p.Phe455Ser
NM_004453.3:c.1547T>C	NP_004444.2:p.Phe516Ser
ENST00000307738.5:c.1406T>C	ENSP00000303552.5:p.Phe469Ser
ENST00000506422.1:n.517T>C
ENST00000511912.5:c.1547T>C	ENSP00000426638.1:p.Phe516Ser
ENST00000681978.1:n.3083T>C
ENST00000682178.1:n.2579T>C
ENST00000682345.1:c.*1247T>C	ENSP00000508122.1:n.*1247T>C
ENST00000682452.1:n.1878T>C
ENST00000682456.1:c.1406T>C	ENSP00000508240.1:p.Phe469Ser
ENST00000682566.1:n.2330T>C
ENST00000682613.1:n.1859T>C
ENST00000682734.1:c.374T>C	ENSP00000507860.1:p.Phe125Ser
ENST00000682820.1:n.1584T>C
ENST00000683004.1:c.*1240T>C	ENSP00000506936.1:n.*1240T>C
ENST00000683079.1:c.*972T>C	ENSP00000507296.1:n.*972T>C
ENST00000683081.1:c.*1384T>C	ENSP00000507722.1:n.*1384T>C
ENST00000683181.1:n.826T>C
ENST00000683209.1:n.3873T>C
ENST00000683305.1:c.1364T>C	ENSP00000508043.1:p.Phe455Ser
ENST00000683448.1:c.*467T>C	ENSP00000506931.1:n.*467T>C
ENST00000683478.1:c.*898T>C	ENSP00000507793.1:n.*898T>C
ENST00000683483.1:c.1403T>C	ENSP00000507719.1:p.Phe468Ser
ENST00000683622.1:n.1261T>C
ENST00000683751.1:c.1052T>C	ENSP00000506944.1:p.Phe351Ser
ENST00000684036.1:c.1364T>C	ENSP00000507276.1:p.Phe455Ser
ENST00000684129.1:c.374T>C	ENSP00000507174.1:p.Phe125Ser
ENST00000684209.1:n.1922T>C
ENST00000684296.1:c.*467T>C	ENSP00000507740.1:n.*467T>C
ENST00000684505.1:c.1496T>C	ENSP00000508237.1:p.Phe499Ser
ENST00000684552.1:c.*2966T>C	ENSP00000506899.1:n.*2966T>C
ENST00000684611.1:n.3275T>C
ENST00000684622.1:c.1547T>C	ENSP00000507546.1:p.Phe516Ser
ENST00000684627.1:c.1364T>C	ENSP00000507471.1:p.Phe455Ser
ENST00000684641.1:c.1262T>C	ENSP00000507642.1:p.Phe421Ser
ENST00000684675.1:c.*394T>C	ENSP00000506934.1:n.*394T>C
ENST00000684749.1:n.1616T>C
XM_024453935.1:c.1364T>C	XP_024309703.1:p.Phe455Ser