Canonical Allele Identifier: CA3122277

Gene: ETFDH

Linked Data

• ClinVar Variation Id: 1607930
• ClinVar RCV Id: RCV002144948
• dbSNP Id: rs140731939
• ExAC: 4:159601692 T / G
• gnomAD v2: 4-159601692-T-G
• gnomAD v3: 4-158680540-T-G
• gnomAD v4: 4-158680540-T-G
• MyVariant Identifiers: chr4:g.159601692T>G (hg19) ; chr4:g.158680540T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158680540T>G , CM000666.2:g.158680540T>G	GRCh38
NC_000004.11:g.159601692T>G , CM000666.1:g.159601692T>G	GRCh37
NC_000004.10:g.159821142T>G	NCBI36
NG_007078.2:g.13199T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436096.3:n.359T>G
ENST00000507475.6:n.179-4052T>G
ENST00000681978.1:n.357T>G
ENST00000682178.1:n.133T>G
ENST00000682345.1:c.47T>G	ENSP00000508122.1:p.Leu16Arg
ENST00000682409.1:n.217T>G
ENST00000682452.1:n.439T>G
ENST00000682456.1:c.108T>G	ENSP00000508240.1:p.Thr36=
ENST00000682601.1:n.299T>G
ENST00000682734.1:c.-649-4052T>G	ENSP00000507860.1:n.-649-4052T>G
ENST00000682820.1:n.145T>G
ENST00000682910.1:n.415T>G
ENST00000683004.1:c.108T>G	ENSP00000506936.1:p.Thr36=
ENST00000683079.1:c.108T>G	ENSP00000507296.1:p.Thr36=
ENST00000683081.1:c.108T>G	ENSP00000507722.1:p.Thr36=
ENST00000683305.1:c.-52-1031T>G	ENSP00000508043.1:n.-52-1031T>G
ENST00000683448.1:c.-90-4052T>G	ENSP00000506931.1:n.-90-4052T>G
ENST00000683478.1:c.108T>G	ENSP00000507793.1:p.Thr36=
ENST00000683483.1:c.108T>G	ENSP00000507719.1:p.Thr36=
ENST00000683750.1:n.231T>G
ENST00000683751.1:c.-90-4052T>G	ENSP00000506944.1:n.-90-4052T>G
ENST00000683799.1:n.417T>G
ENST00000684036.1:c.-76T>G	ENSP00000507276.1:n.-76T>G
ENST00000684129.1:c.-694-4052T>G	ENSP00000507174.1:n.-694-4052T>G
ENST00000684209.1:n.348T>G
ENST00000684296.1:c.108T>G	ENSP00000507740.1:p.Thr36=
ENST00000684505.1:c.108T>G	ENSP00000508237.1:p.Thr36=
ENST00000684552.1:c.108T>G	ENSP00000506899.1:p.Thr36=
ENST00000684611.1:n.249T>G
ENST00000684622.1:c.108T>G	ENSP00000507546.1:p.Thr36=
ENST00000684627.1:c.-76T>G	ENSP00000507471.1:n.-76T>G
ENST00000684641.1:c.108T>G	ENSP00000507642.1:p.Thr36=
ENST00000684675.1:c.108T>G	ENSP00000506934.1:p.Thr36=
ENST00000684749.1:n.133T>G
ENST00000511912.6:c.108T>G MANE Select	ENSP00000426638.1:p.Thr36=
ENST00000307738.5:c.35-1655T>G	ENSP00000303552.5:n.35-1655T>G
ENST00000436096.2:n.249T>G
ENST00000506422.1:n.86+8050T>G
ENST00000507475.5:c.-90-4052T>G	ENSP00000422735.1:n.-90-4052T>G
ENST00000511912.5:c.108T>G	ENSP00000426638.1:p.Thr36=
ENST00000512251.5:c.47T>G	ENSP00000425661.1:p.Leu16Arg
NM_001281737.1:c.35-1655T>G	NP_001268666.1:n.35-1655T>G
NM_004453.3:c.108T>G	NP_004444.2:p.Thr36=
XM_024453935.1:c.-76T>G	XP_024309703.1:n.-76T>G
NM_004453.4:c.108T>G MANE Select	NP_004444.2:p.Thr36=
NM_001281737.2:c.35-1655T>G	NP_001268666.1:n.35-1655T>G