Canonical Allele Identifier: CA358561301

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158697585G>A , CM000666.2:g.158697585G>A	GRCh38
NC_000004.11:g.159618737G>A , CM000666.1:g.159618737G>A	GRCh37
NC_000004.10:g.159838187G>A	NCBI36
NG_007078.2:g.30244G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.858G>A MANE Select	NP_004444.2:p.Trp286Ter
ENST00000511912.6:c.858G>A MANE Select	ENSP00000426638.1:p.Trp286Ter
NM_001281737.1:c.717G>A	NP_001268666.1:p.Trp239Ter
NM_001281737.2:c.717G>A	NP_001268666.1:p.Trp239Ter
NM_001281738.1:c.675G>A	NP_001268667.1:p.Trp225Ter
NM_004453.3:c.858G>A	NP_004444.2:p.Trp286Ter
ENST00000307738.5:c.717G>A	ENSP00000303552.5:p.Trp239Ter
ENST00000506422.1:n.87-5838G>A
ENST00000507475.5:c.363G>A	ENSP00000422735.1:p.Trp121Ter
ENST00000507475.6:n.631G>A
ENST00000511912.5:c.858G>A	ENSP00000426638.1:p.Trp286Ter
ENST00000681978.1:n.1107G>A
ENST00000682178.1:n.1890G>A
ENST00000682345.1:c.*558G>A	ENSP00000508122.1:n.*558G>A
ENST00000682452.1:n.1189G>A
ENST00000682456.1:c.832-1402G>A	ENSP00000508240.1:n.832-1402G>A
ENST00000682566.1:n.354G>A
ENST00000682601.1:n.1049G>A
ENST00000682613.1:n.1170G>A
ENST00000682734.1:c.-316G>A	ENSP00000507860.1:n.-316G>A
ENST00000682820.1:n.895G>A
ENST00000683004.1:c.*695G>A	ENSP00000506936.1:n.*695G>A
ENST00000683079.1:c.*238G>A	ENSP00000507296.1:n.*238G>A
ENST00000683081.1:c.*695G>A	ENSP00000507722.1:n.*695G>A
ENST00000683305.1:c.675G>A	ENSP00000508043.1:p.Trp225Ter
ENST00000683448.1:c.363G>A	ENSP00000506931.1:p.Trp121Ter
ENST00000683478.1:c.*238G>A	ENSP00000507793.1:n.*238G>A
ENST00000683483.1:c.858G>A	ENSP00000507719.1:p.Trp286Ter
ENST00000683751.1:c.363G>A	ENSP00000506944.1:p.Trp121Ter
ENST00000684036.1:c.675G>A	ENSP00000507276.1:p.Trp225Ter
ENST00000684129.1:c.-361G>A	ENSP00000507174.1:n.-361G>A
ENST00000684209.1:n.1233G>A
ENST00000684296.1:c.858G>A	ENSP00000507740.1:p.Trp286Ter
ENST00000684505.1:c.807G>A	ENSP00000508237.1:p.Trp269Ter
ENST00000684552.1:c.858G>A	ENSP00000506899.1:p.Trp286Ter
ENST00000684611.1:n.2586G>A
ENST00000684622.1:c.858G>A	ENSP00000507546.1:p.Trp286Ter
ENST00000684627.1:c.675G>A	ENSP00000507471.1:p.Trp225Ter
ENST00000684641.1:c.831+1942G>A	ENSP00000507642.1:n.831+1942G>A
ENST00000684675.1:c.858G>A	ENSP00000506934.1:p.Trp286Ter
ENST00000684749.1:n.927G>A
XM_024453935.1:c.675G>A	XP_024309703.1:p.Trp225Ter