Canonical Allele Identifier: CA358564622

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706356A>T , CM000666.2:g.158706356A>T	GRCh38
NC_000004.11:g.159627508A>T , CM000666.1:g.159627508A>T	GRCh37
NC_000004.10:g.159846958A>T	NCBI36
NG_007078.2:g.39015A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1453A>T MANE Select	NP_004444.2:p.Thr485Ser
ENST00000511912.6:c.1453A>T MANE Select	ENSP00000426638.1:p.Thr485Ser
NM_001281737.1:c.1312A>T	NP_001268666.1:p.Thr438Ser
NM_001281737.2:c.1312A>T	NP_001268666.1:p.Thr438Ser
NM_001281738.1:c.1270A>T	NP_001268667.1:p.Thr424Ser
NM_004453.3:c.1453A>T	NP_004444.2:p.Thr485Ser
ENST00000307738.5:c.1312A>T	ENSP00000303552.5:p.Thr438Ser
ENST00000506422.1:n.423A>T
ENST00000511912.5:c.1453A>T	ENSP00000426638.1:p.Thr485Ser
ENST00000681978.1:n.2989A>T
ENST00000682178.1:n.2485A>T
ENST00000682345.1:c.*1153A>T	ENSP00000508122.1:n.*1153A>T
ENST00000682452.1:n.1784A>T
ENST00000682456.1:c.1312A>T	ENSP00000508240.1:p.Thr438Ser
ENST00000682566.1:n.2236A>T
ENST00000682613.1:n.1765A>T
ENST00000682734.1:c.280A>T	ENSP00000507860.1:p.Thr94Ser
ENST00000682820.1:n.1490A>T
ENST00000683004.1:c.*1146A>T	ENSP00000506936.1:n.*1146A>T
ENST00000683079.1:c.*878A>T	ENSP00000507296.1:n.*878A>T
ENST00000683081.1:c.*1290A>T	ENSP00000507722.1:n.*1290A>T
ENST00000683181.1:n.732A>T
ENST00000683209.1:n.3779A>T
ENST00000683305.1:c.1270A>T	ENSP00000508043.1:p.Thr424Ser
ENST00000683448.1:c.*373A>T	ENSP00000506931.1:n.*373A>T
ENST00000683478.1:c.*804A>T	ENSP00000507793.1:n.*804A>T
ENST00000683483.1:c.1309A>T	ENSP00000507719.1:p.Thr437Ser
ENST00000683622.1:n.1167A>T
ENST00000683751.1:c.958A>T	ENSP00000506944.1:p.Thr320Ser
ENST00000684036.1:c.1270A>T	ENSP00000507276.1:p.Thr424Ser
ENST00000684129.1:c.280A>T	ENSP00000507174.1:p.Thr94Ser
ENST00000684209.1:n.1828A>T
ENST00000684296.1:c.*373A>T	ENSP00000507740.1:n.*373A>T
ENST00000684505.1:c.1402A>T	ENSP00000508237.1:p.Thr468Ser
ENST00000684552.1:c.*2872A>T	ENSP00000506899.1:n.*2872A>T
ENST00000684611.1:n.3181A>T
ENST00000684622.1:c.1453A>T	ENSP00000507546.1:p.Thr485Ser
ENST00000684627.1:c.1270A>T	ENSP00000507471.1:p.Thr424Ser
ENST00000684641.1:c.1168A>T	ENSP00000507642.1:p.Thr390Ser
ENST00000684675.1:c.*300A>T	ENSP00000506934.1:n.*300A>T
ENST00000684749.1:n.1522A>T
XM_024453935.1:c.1270A>T	XP_024309703.1:p.Thr424Ser