Canonical Allele Identifier: CA442141785

Gene: ETFDH

Linked Data

• ClinVar Variation Id: 2982806
• ClinVar RCV Id: RCV003845437
• MyVariant Identifiers: chr4:g.159603423T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158682271T>C , CM000666.2:g.158682271T>C	GRCh38
NC_000004.11:g.159603423T>C , CM000666.1:g.159603423T>C	GRCh37
NC_000004.10:g.159822873T>C	NCBI36
NG_007078.2:g.14930T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000436096.3:n.503T>C
ENST00000507475.6:n.179-2321T>C
ENST00000681978.1:n.501T>C
ENST00000682178.1:n.1284T>C
ENST00000682345.1:c.*71T>C	ENSP00000508122.1:n.*71T>C
ENST00000682409.1:n.1948T>C
ENST00000682452.1:n.583T>C
ENST00000682456.1:c.252T>C	ENSP00000508240.1:p.Ala84=
ENST00000682601.1:n.443T>C
ENST00000682734.1:c.-649-2321T>C	ENSP00000507860.1:n.-649-2321T>C
ENST00000682820.1:n.289T>C
ENST00000682910.1:n.559T>C
ENST00000683004.1:c.*89T>C	ENSP00000506936.1:n.*89T>C
ENST00000683079.1:c.252T>C	ENSP00000507296.1:p.Ala84=
ENST00000683081.1:c.*89T>C	ENSP00000507722.1:n.*89T>C
ENST00000683305.1:c.69T>C	ENSP00000508043.1:p.Ala23=
ENST00000683448.1:c.-90-2321T>C	ENSP00000506931.1:n.-90-2321T>C
ENST00000683478.1:c.252T>C	ENSP00000507793.1:p.Ala84=
ENST00000683483.1:c.252T>C	ENSP00000507719.1:p.Ala84=
ENST00000683750.1:n.375T>C
ENST00000683751.1:c.-90-2321T>C	ENSP00000506944.1:n.-90-2321T>C
ENST00000683799.1:n.1568T>C
ENST00000684036.1:c.69T>C	ENSP00000507276.1:p.Ala23=
ENST00000684129.1:c.-694-2321T>C	ENSP00000507174.1:n.-694-2321T>C
ENST00000684209.1:n.492T>C
ENST00000684296.1:c.252T>C	ENSP00000507740.1:p.Ala84=
ENST00000684505.1:c.252T>C	ENSP00000508237.1:p.Ala84=
ENST00000684552.1:c.252T>C	ENSP00000506899.1:p.Ala84=
ENST00000684611.1:n.1980T>C
ENST00000684622.1:c.252T>C	ENSP00000507546.1:p.Ala84=
ENST00000684627.1:c.69T>C	ENSP00000507471.1:p.Ala23=
ENST00000684641.1:c.252T>C	ENSP00000507642.1:p.Ala84=
ENST00000684675.1:c.252T>C	ENSP00000506934.1:p.Ala84=
ENST00000684749.1:n.321T>C
ENST00000511912.6:c.252T>C MANE Select	ENSP00000426638.1:p.Ala84=
ENST00000307738.5:c.111T>C	ENSP00000303552.5:p.Ala37=
ENST00000436096.2:n.437T>C
ENST00000506422.1:n.86+9781T>C
ENST00000507475.5:c.-90-2321T>C	ENSP00000422735.1:n.-90-2321T>C
ENST00000511912.5:c.252T>C	ENSP00000426638.1:p.Ala84=
ENST00000514148.1:n.330T>C
NM_001281737.1:c.111T>C	NP_001268666.1:p.Ala37=
NM_001281738.1:c.69T>C	NP_001268667.1:p.Ala23=
NM_004453.3:c.252T>C	NP_004444.2:p.Ala84=
XM_024453935.1:c.69T>C	XP_024309703.1:p.Ala23=
NM_004453.4:c.252T>C MANE Select	NP_004444.2:p.Ala84=
NM_001281737.2:c.111T>C	NP_001268666.1:p.Ala37=