Canonical Allele Identifier: CA3122723

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708454T>C , CM000666.2:g.158708454T>C	GRCh38
NC_000004.11:g.159629606T>C , CM000666.1:g.159629606T>C	GRCh37
NC_000004.10:g.159849056T>C	NCBI36
NG_007078.2:g.41113T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1781T>C MANE Select	NP_004444.2:p.Ile594Thr
ENST00000511912.6:c.1781T>C MANE Select	ENSP00000426638.1:p.Ile594Thr
NM_001281737.1:c.1640T>C	NP_001268666.1:p.Ile547Thr
NM_001281737.2:c.1640T>C	NP_001268666.1:p.Ile547Thr
NM_001281738.1:c.1598T>C	NP_001268667.1:p.Ile533Thr
NM_004453.3:c.1781T>C	NP_004444.2:p.Ile594Thr
ENST00000307738.5:c.1640T>C	ENSP00000303552.5:p.Ile547Thr
ENST00000506422.1:n.751T>C
ENST00000511912.5:c.1781T>C	ENSP00000426638.1:p.Ile594Thr
ENST00000681978.1:n.3317T>C
ENST00000682178.1:n.2813T>C
ENST00000682345.1:c.*1481T>C	ENSP00000508122.1:n.*1481T>C
ENST00000682452.1:n.2112T>C
ENST00000682456.1:c.1640T>C	ENSP00000508240.1:p.Ile547Thr
ENST00000682566.1:n.2564T>C
ENST00000682613.1:n.2093T>C
ENST00000682734.1:c.608T>C	ENSP00000507860.1:p.Ile203Thr
ENST00000682820.1:n.1818T>C
ENST00000683004.1:c.*1474T>C	ENSP00000506936.1:n.*1474T>C
ENST00000683079.1:c.*1206T>C	ENSP00000507296.1:n.*1206T>C
ENST00000683081.1:c.*1618T>C	ENSP00000507722.1:n.*1618T>C
ENST00000683181.1:n.1060T>C
ENST00000683209.1:n.4107T>C
ENST00000683305.1:c.1598T>C	ENSP00000508043.1:p.Ile533Thr
ENST00000683448.1:c.*701T>C	ENSP00000506931.1:n.*701T>C
ENST00000683478.1:c.*1132T>C	ENSP00000507793.1:n.*1132T>C
ENST00000683483.1:c.1637T>C	ENSP00000507719.1:p.Ile546Thr
ENST00000683622.1:n.3008T>C
ENST00000683751.1:c.1286T>C	ENSP00000506944.1:p.Ile429Thr
ENST00000684036.1:c.1598T>C	ENSP00000507276.1:p.Ile533Thr
ENST00000684129.1:c.608T>C	ENSP00000507174.1:p.Ile203Thr
ENST00000684209.1:n.2156T>C
ENST00000684296.1:c.*701T>C	ENSP00000507740.1:n.*701T>C
ENST00000684505.1:c.1730T>C	ENSP00000508237.1:p.Ile577Thr
ENST00000684552.1:c.*3200T>C	ENSP00000506899.1:n.*3200T>C
ENST00000684611.1:n.3509T>C
ENST00000684622.1:c.*141T>C	ENSP00000507546.1:n.*141T>C
ENST00000684627.1:c.1598T>C	ENSP00000507471.1:p.Ile533Thr
ENST00000684641.1:c.1496T>C	ENSP00000507642.1:p.Ile499Thr
ENST00000684675.1:c.*628T>C	ENSP00000506934.1:n.*628T>C
ENST00000684749.1:n.1850T>C
XM_024453935.1:c.1598T>C	XP_024309703.1:p.Ile533Thr