Canonical Allele Identifier: CA358572986

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158672459G>T , CM000666.2:g.158672459G>T	GRCh38
NC_000004.11:g.159593611G>T , CM000666.1:g.159593611G>T	GRCh37
NC_000004.10:g.159813061G>T	NCBI36
NG_007078.2:g.5118G>T
NG_033150.1:g.4797C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.3G>T MANE Select	NP_004444.2:p.Met1Ile
ENST00000511912.6:c.3G>T MANE Select	ENSP00000426638.1:p.Met1Ile
NM_001281737.1:c.3G>T	NP_001268666.1:p.Met1Ile
NM_001281737.2:c.3G>T	NP_001268666.1:p.Met1Ile
NM_004453.3:c.3G>T	NP_004444.2:p.Met1Ile
ENST00000307738.5:c.3G>T	ENSP00000303552.5:p.Met1Ile
ENST00000436096.2:n.144G>T
ENST00000436096.3:n.254G>T
ENST00000506422.1:n.55G>T
ENST00000507475.5:c.-122G>T	ENSP00000422735.1:n.-122G>T
ENST00000507475.6:n.147G>T
ENST00000510353.5:n.144G>T
ENST00000511912.5:c.3G>T	ENSP00000426638.1:p.Met1Ile
ENST00000512251.5:c.3G>T	ENSP00000425661.1:p.Met1Ile
ENST00000512251.6:n.492G>T
ENST00000682345.1:c.3G>T	ENSP00000508122.1:p.Met1Ile
ENST00000682409.1:n.112G>T
ENST00000682456.1:c.3G>T	ENSP00000508240.1:p.Met1Ile
ENST00000682601.1:n.194G>T
ENST00000682734.1:c.-681G>T	ENSP00000507860.1:n.-681G>T
ENST00000683004.1:c.3G>T	ENSP00000506936.1:p.Met1Ile
ENST00000683079.1:c.3G>T	ENSP00000507296.1:p.Met1Ile
ENST00000683081.1:c.3G>T	ENSP00000507722.1:p.Met1Ile
ENST00000683305.1:c.-84G>T	ENSP00000508043.1:n.-84G>T
ENST00000683448.1:c.-122G>T	ENSP00000506931.1:n.-122G>T
ENST00000683478.1:c.3G>T	ENSP00000507793.1:p.Met1Ile
ENST00000683483.1:c.3G>T	ENSP00000507719.1:p.Met1Ile
ENST00000683750.1:n.126G>T
ENST00000683751.1:c.-122G>T	ENSP00000506944.1:n.-122G>T
ENST00000684036.1:c.-411G>T	ENSP00000507276.1:n.-411G>T
ENST00000684129.1:c.-726G>T	ENSP00000507174.1:n.-726G>T
ENST00000684296.1:c.3G>T	ENSP00000507740.1:p.Met1Ile
ENST00000684505.1:c.3G>T	ENSP00000508237.1:p.Met1Ile
ENST00000684552.1:c.3G>T	ENSP00000506899.1:p.Met1Ile
ENST00000684611.1:n.144G>T
ENST00000684622.1:c.3G>T	ENSP00000507546.1:p.Met1Ile
ENST00000684627.1:c.-569G>T	ENSP00000507471.1:n.-569G>T
ENST00000684641.1:c.3G>T	ENSP00000507642.1:p.Met1Ile
ENST00000684675.1:c.3G>T	ENSP00000506934.1:p.Met1Ile