Canonical Allele Identifier: CA358563825

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706238G>T , CM000666.2:g.158706238G>T	GRCh38
NC_000004.11:g.159627390G>T , CM000666.1:g.159627390G>T	GRCh37
NC_000004.10:g.159846840G>T	NCBI36
NG_007078.2:g.38897G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1335G>T MANE Select	NP_004444.2:p.Trp445Cys
ENST00000511912.6:c.1335G>T MANE Select	ENSP00000426638.1:p.Trp445Cys
NM_001281737.1:c.1194G>T	NP_001268666.1:p.Trp398Cys
NM_001281737.2:c.1194G>T	NP_001268666.1:p.Trp398Cys
NM_001281738.1:c.1152G>T	NP_001268667.1:p.Trp384Cys
NM_004453.3:c.1335G>T	NP_004444.2:p.Trp445Cys
ENST00000307738.5:c.1194G>T	ENSP00000303552.5:p.Trp398Cys
ENST00000506422.1:n.305G>T
ENST00000511912.5:c.1335G>T	ENSP00000426638.1:p.Trp445Cys
ENST00000681978.1:n.2871G>T
ENST00000682178.1:n.2367G>T
ENST00000682345.1:c.*1035G>T	ENSP00000508122.1:n.*1035G>T
ENST00000682452.1:n.1666G>T
ENST00000682456.1:c.1194G>T	ENSP00000508240.1:p.Trp398Cys
ENST00000682566.1:n.2118G>T
ENST00000682613.1:n.1647G>T
ENST00000682734.1:c.162G>T	ENSP00000507860.1:p.Trp54Cys
ENST00000682820.1:n.1372G>T
ENST00000683004.1:c.*1028G>T	ENSP00000506936.1:n.*1028G>T
ENST00000683079.1:c.*760G>T	ENSP00000507296.1:n.*760G>T
ENST00000683081.1:c.*1172G>T	ENSP00000507722.1:n.*1172G>T
ENST00000683181.1:n.614G>T
ENST00000683209.1:n.3661G>T
ENST00000683305.1:c.1152G>T	ENSP00000508043.1:p.Trp384Cys
ENST00000683448.1:c.*255G>T	ENSP00000506931.1:n.*255G>T
ENST00000683478.1:c.*686G>T	ENSP00000507793.1:n.*686G>T
ENST00000683483.1:c.1191G>T	ENSP00000507719.1:p.Trp397Cys
ENST00000683622.1:n.1049G>T
ENST00000683751.1:c.840G>T	ENSP00000506944.1:p.Trp280Cys
ENST00000684036.1:c.1152G>T	ENSP00000507276.1:p.Trp384Cys
ENST00000684129.1:c.162G>T	ENSP00000507174.1:p.Trp54Cys
ENST00000684209.1:n.1710G>T
ENST00000684296.1:c.*255G>T	ENSP00000507740.1:n.*255G>T
ENST00000684505.1:c.1284G>T	ENSP00000508237.1:p.Trp428Cys
ENST00000684552.1:c.*2754G>T	ENSP00000506899.1:n.*2754G>T
ENST00000684611.1:n.3063G>T
ENST00000684622.1:c.1335G>T	ENSP00000507546.1:p.Trp445Cys
ENST00000684627.1:c.1152G>T	ENSP00000507471.1:p.Trp384Cys
ENST00000684641.1:c.1050G>T	ENSP00000507642.1:p.Trp350Cys
ENST00000684675.1:c.*182G>T	ENSP00000506934.1:n.*182G>T
ENST00000684749.1:n.1404G>T
XM_024453935.1:c.1152G>T	XP_024309703.1:p.Trp384Cys