Canonical Allele Identifier: CA358573595

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158680602G>A , CM000666.2:g.158680602G>A	GRCh38
NC_000004.11:g.159601754G>A , CM000666.1:g.159601754G>A	GRCh37
NC_000004.10:g.159821204G>A	NCBI36
NG_007078.2:g.13261G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.170G>A MANE Select	NP_004444.2:p.Trp57Ter
ENST00000511912.6:c.170G>A MANE Select	ENSP00000426638.1:p.Trp57Ter
NM_001281737.1:c.35-1593G>A	NP_001268666.1:n.35-1593G>A
NM_001281737.2:c.35-1593G>A	NP_001268666.1:n.35-1593G>A
NM_004453.3:c.170G>A	NP_004444.2:p.Trp57Ter
ENST00000307738.5:c.35-1593G>A	ENSP00000303552.5:n.35-1593G>A
ENST00000436096.2:n.311G>A
ENST00000436096.3:n.421G>A
ENST00000506422.1:n.86+8112G>A
ENST00000507475.5:c.-90-3990G>A	ENSP00000422735.1:n.-90-3990G>A
ENST00000507475.6:n.179-3990G>A
ENST00000511912.5:c.170G>A	ENSP00000426638.1:p.Trp57Ter
ENST00000512251.5:c.109G>A	ENSP00000425661.1:p.Gly37Arg
ENST00000681978.1:n.419G>A
ENST00000682178.1:n.195G>A
ENST00000682345.1:c.109G>A	ENSP00000508122.1:p.Gly37Arg
ENST00000682409.1:n.279G>A
ENST00000682452.1:n.501G>A
ENST00000682456.1:c.170G>A	ENSP00000508240.1:p.Trp57Ter
ENST00000682601.1:n.361G>A
ENST00000682734.1:c.-649-3990G>A	ENSP00000507860.1:n.-649-3990G>A
ENST00000682820.1:n.207G>A
ENST00000682910.1:n.477G>A
ENST00000683004.1:c.170G>A	ENSP00000506936.1:p.Trp57Ter
ENST00000683079.1:c.170G>A	ENSP00000507296.1:p.Trp57Ter
ENST00000683081.1:c.170G>A	ENSP00000507722.1:p.Trp57Ter
ENST00000683305.1:c.-52-969G>A	ENSP00000508043.1:n.-52-969G>A
ENST00000683448.1:c.-90-3990G>A	ENSP00000506931.1:n.-90-3990G>A
ENST00000683478.1:c.170G>A	ENSP00000507793.1:p.Trp57Ter
ENST00000683483.1:c.170G>A	ENSP00000507719.1:p.Trp57Ter
ENST00000683750.1:n.293G>A
ENST00000683751.1:c.-90-3990G>A	ENSP00000506944.1:n.-90-3990G>A
ENST00000683799.1:n.479G>A
ENST00000684036.1:c.-14G>A	ENSP00000507276.1:n.-14G>A
ENST00000684129.1:c.-694-3990G>A	ENSP00000507174.1:n.-694-3990G>A
ENST00000684209.1:n.410G>A
ENST00000684296.1:c.170G>A	ENSP00000507740.1:p.Trp57Ter
ENST00000684505.1:c.170G>A	ENSP00000508237.1:p.Trp57Ter
ENST00000684552.1:c.170G>A	ENSP00000506899.1:p.Trp57Ter
ENST00000684611.1:n.311G>A
ENST00000684622.1:c.170G>A	ENSP00000507546.1:p.Trp57Ter
ENST00000684627.1:c.-14G>A	ENSP00000507471.1:n.-14G>A
ENST00000684641.1:c.170G>A	ENSP00000507642.1:p.Trp57Ter
ENST00000684675.1:c.170G>A	ENSP00000506934.1:p.Trp57Ter
ENST00000684749.1:n.195G>A
XM_024453935.1:c.-14G>A	XP_024309703.1:n.-14G>A