Canonical Allele Identifier: CA3122268

Gene: ETFDH

Linked Data

• ClinVar Variation Id: 2145939
• ClinVar RCV Id: RCV003066875
• dbSNP Id: rs567085256
• ExAC: 4:159601603 C / T
• gnomAD v2: 4-159601603-C-T
• gnomAD v3: 4-158680451-C-T
• gnomAD v4: 4-158680451-C-T
• MyVariant Identifiers: chr4:g.159601603C>T (hg19) ; chr4:g.158680451C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158680451C>T , CM000666.2:g.158680451C>T	GRCh38
NC_000004.11:g.159601603C>T , CM000666.1:g.159601603C>T	GRCh37
NC_000004.10:g.159821053C>T	NCBI36
NG_007078.2:g.13110C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000436096.3:n.286-16C>T
ENST00000507475.6:n.179-4141C>T
ENST00000681978.1:n.268C>T
ENST00000682178.1:n.60-16C>T
ENST00000682345.1:c.35-77C>T	ENSP00000508122.1:n.35-77C>T
ENST00000682409.1:n.144-16C>T
ENST00000682452.1:n.350C>T
ENST00000682456.1:c.35-16C>T	ENSP00000508240.1:n.35-16C>T
ENST00000682601.1:n.226-16C>T
ENST00000682734.1:c.-649-4141C>T	ENSP00000507860.1:n.-649-4141C>T
ENST00000682820.1:n.72-16C>T
ENST00000682910.1:n.326C>T
ENST00000683004.1:c.35-16C>T	ENSP00000506936.1:n.35-16C>T
ENST00000683079.1:c.35-16C>T	ENSP00000507296.1:n.35-16C>T
ENST00000683081.1:c.35-16C>T	ENSP00000507722.1:n.35-16C>T
ENST00000683305.1:c.-52-1120C>T	ENSP00000508043.1:n.-52-1120C>T
ENST00000683448.1:c.-90-4141C>T	ENSP00000506931.1:n.-90-4141C>T
ENST00000683478.1:c.35-16C>T	ENSP00000507793.1:n.35-16C>T
ENST00000683483.1:c.35-16C>T	ENSP00000507719.1:n.35-16C>T
ENST00000683750.1:n.158-16C>T
ENST00000683751.1:c.-90-4141C>T	ENSP00000506944.1:n.-90-4141C>T
ENST00000683799.1:n.328C>T
ENST00000684036.1:c.-149-16C>T	ENSP00000507276.1:n.-149-16C>T
ENST00000684129.1:c.-694-4141C>T	ENSP00000507174.1:n.-694-4141C>T
ENST00000684209.1:n.259C>T
ENST00000684296.1:c.35-16C>T	ENSP00000507740.1:n.35-16C>T
ENST00000684505.1:c.35-16C>T	ENSP00000508237.1:n.35-16C>T
ENST00000684552.1:c.35-16C>T	ENSP00000506899.1:n.35-16C>T
ENST00000684611.1:n.176-16C>T
ENST00000684622.1:c.35-16C>T	ENSP00000507546.1:n.35-16C>T
ENST00000684627.1:c.-149-16C>T	ENSP00000507471.1:n.-149-16C>T
ENST00000684641.1:c.35-16C>T	ENSP00000507642.1:n.35-16C>T
ENST00000684675.1:c.35-16C>T	ENSP00000506934.1:n.35-16C>T
ENST00000684749.1:n.60-16C>T
ENST00000511912.6:c.35-16C>T MANE Select	ENSP00000426638.1:n.35-16C>T
ENST00000307738.5:c.35-1744C>T	ENSP00000303552.5:n.35-1744C>T
ENST00000436096.2:n.176-16C>T
ENST00000506422.1:n.86+7961C>T
ENST00000507475.5:c.-90-4141C>T	ENSP00000422735.1:n.-90-4141C>T
ENST00000511912.5:c.35-16C>T	ENSP00000426638.1:n.35-16C>T
ENST00000512251.5:c.35-77C>T	ENSP00000425661.1:n.35-77C>T
NM_001281737.1:c.35-1744C>T	NP_001268666.1:n.35-1744C>T
NM_004453.3:c.35-16C>T	NP_004444.2:n.35-16C>T
XM_024453935.1:c.-149-16C>T	XP_024309703.1:n.-149-16C>T
NM_004453.4:c.35-16C>T MANE Select	NP_004444.2:n.35-16C>T
NM_001281737.2:c.35-1744C>T	NP_001268666.1:n.35-1744C>T