Canonical Allele Identifier: CA358563093

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703576C>T , CM000666.2:g.158703576C>T	GRCh38
NC_000004.11:g.159624728C>T , CM000666.1:g.159624728C>T	GRCh37
NC_000004.10:g.159844178C>T	NCBI36
NG_007078.2:g.36235C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1270C>T MANE Select	NP_004444.2:p.Gln424Ter
ENST00000511912.6:c.1270C>T MANE Select	ENSP00000426638.1:p.Gln424Ter
NM_001281737.1:c.1129C>T	NP_001268666.1:p.Gln377Ter
NM_001281737.2:c.1129C>T	NP_001268666.1:p.Gln377Ter
NM_001281738.1:c.1087C>T	NP_001268667.1:p.Gln363Ter
NM_004453.3:c.1270C>T	NP_004444.2:p.Gln424Ter
ENST00000307738.5:c.1129C>T	ENSP00000303552.5:p.Gln377Ter
ENST00000506422.1:n.240C>T
ENST00000511912.5:c.1270C>T	ENSP00000426638.1:p.Gln424Ter
ENST00000681978.1:n.2806C>T
ENST00000682178.1:n.2302C>T
ENST00000682345.1:c.*970C>T	ENSP00000508122.1:n.*970C>T
ENST00000682452.1:n.1601C>T
ENST00000682456.1:c.1129C>T	ENSP00000508240.1:p.Gln377Ter
ENST00000682566.1:n.2053C>T
ENST00000682613.1:n.1582C>T
ENST00000682734.1:c.97C>T	ENSP00000507860.1:p.Gln33Ter
ENST00000682820.1:n.1307C>T
ENST00000683004.1:c.*963C>T	ENSP00000506936.1:n.*963C>T
ENST00000683079.1:c.*695C>T	ENSP00000507296.1:n.*695C>T
ENST00000683081.1:c.*1107C>T	ENSP00000507722.1:n.*1107C>T
ENST00000683181.1:n.549C>T
ENST00000683209.1:n.3596C>T
ENST00000683305.1:c.1087C>T	ENSP00000508043.1:p.Gln363Ter
ENST00000683448.1:c.*190C>T	ENSP00000506931.1:n.*190C>T
ENST00000683478.1:c.*621C>T	ENSP00000507793.1:n.*621C>T
ENST00000683483.1:c.1126C>T	ENSP00000507719.1:p.Gln376Ter
ENST00000683622.1:n.984C>T
ENST00000683751.1:c.775C>T	ENSP00000506944.1:p.Gln259Ter
ENST00000684036.1:c.1087C>T	ENSP00000507276.1:p.Gln363Ter
ENST00000684129.1:c.97C>T	ENSP00000507174.1:p.Gln33Ter
ENST00000684209.1:n.1645C>T
ENST00000684296.1:c.*190C>T	ENSP00000507740.1:n.*190C>T
ENST00000684505.1:c.1219C>T	ENSP00000508237.1:p.Gln407Ter
ENST00000684552.1:c.*190C>T	ENSP00000506899.1:n.*190C>T
ENST00000684611.1:n.2998C>T
ENST00000684622.1:c.1270C>T	ENSP00000507546.1:p.Gln424Ter
ENST00000684627.1:c.1087C>T	ENSP00000507471.1:p.Gln363Ter
ENST00000684641.1:c.985C>T	ENSP00000507642.1:p.Gln329Ter
ENST00000684675.1:c.*117C>T	ENSP00000506934.1:n.*117C>T
ENST00000684749.1:n.1339C>T
XM_024453935.1:c.1087C>T	XP_024309703.1:p.Gln363Ter