Canonical Allele Identifier: CA3122655

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706690C>T , CM000666.2:g.158706690C>T	GRCh38
NC_000004.11:g.159627842C>T , CM000666.1:g.159627842C>T	GRCh37
NC_000004.10:g.159847292C>T	NCBI36
NG_007078.2:g.39349C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1530C>T MANE Select	NP_004444.2:p.Pro510=
ENST00000511912.6:c.1530C>T MANE Select	ENSP00000426638.1:p.Pro510=
NM_001281737.1:c.1389C>T	NP_001268666.1:p.Pro463=
NM_001281737.2:c.1389C>T	NP_001268666.1:p.Pro463=
NM_001281738.1:c.1347C>T	NP_001268667.1:p.Pro449=
NM_004453.3:c.1530C>T	NP_004444.2:p.Pro510=
ENST00000307738.5:c.1389C>T	ENSP00000303552.5:p.Pro463=
ENST00000506422.1:n.500C>T
ENST00000511912.5:c.1530C>T	ENSP00000426638.1:p.Pro510=
ENST00000681978.1:n.3066C>T
ENST00000682178.1:n.2562C>T
ENST00000682345.1:c.*1230C>T	ENSP00000508122.1:n.*1230C>T
ENST00000682452.1:n.1861C>T
ENST00000682456.1:c.1389C>T	ENSP00000508240.1:p.Pro463=
ENST00000682566.1:n.2313C>T
ENST00000682613.1:n.1842C>T
ENST00000682734.1:c.357C>T	ENSP00000507860.1:p.Pro119=
ENST00000682820.1:n.1567C>T
ENST00000683004.1:c.*1223C>T	ENSP00000506936.1:n.*1223C>T
ENST00000683079.1:c.*955C>T	ENSP00000507296.1:n.*955C>T
ENST00000683081.1:c.*1367C>T	ENSP00000507722.1:n.*1367C>T
ENST00000683181.1:n.809C>T
ENST00000683209.1:n.3856C>T
ENST00000683305.1:c.1347C>T	ENSP00000508043.1:p.Pro449=
ENST00000683448.1:c.*450C>T	ENSP00000506931.1:n.*450C>T
ENST00000683478.1:c.*881C>T	ENSP00000507793.1:n.*881C>T
ENST00000683483.1:c.1386C>T	ENSP00000507719.1:p.Pro462=
ENST00000683622.1:n.1244C>T
ENST00000683751.1:c.1035C>T	ENSP00000506944.1:p.Pro345=
ENST00000684036.1:c.1347C>T	ENSP00000507276.1:p.Pro449=
ENST00000684129.1:c.357C>T	ENSP00000507174.1:p.Pro119=
ENST00000684209.1:n.1905C>T
ENST00000684296.1:c.*450C>T	ENSP00000507740.1:n.*450C>T
ENST00000684505.1:c.1479C>T	ENSP00000508237.1:p.Pro493=
ENST00000684552.1:c.*2949C>T	ENSP00000506899.1:n.*2949C>T
ENST00000684611.1:n.3258C>T
ENST00000684622.1:c.1530C>T	ENSP00000507546.1:p.Pro510=
ENST00000684627.1:c.1347C>T	ENSP00000507471.1:p.Pro449=
ENST00000684641.1:c.1245C>T	ENSP00000507642.1:p.Pro415=
ENST00000684675.1:c.*377C>T	ENSP00000506934.1:n.*377C>T
ENST00000684749.1:n.1599C>T
XM_024453935.1:c.1347C>T	XP_024309703.1:p.Pro449=