Canonical Allele Identifier: CA358573738

Gene: ETFDH

Linked Data

• gnomAD v4: 4-158682197-G-C
• MyVariant Identifiers: chr4:g.159603349G>C (hg19) ; chr4:g.158682197G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158682197G>C , CM000666.2:g.158682197G>C	GRCh38
NC_000004.11:g.159603349G>C , CM000666.1:g.159603349G>C	GRCh37
NC_000004.10:g.159822799G>C	NCBI36
NG_007078.2:g.14856G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000436096.3:n.429G>C
ENST00000507475.6:n.179-2395G>C
ENST00000681978.1:n.427G>C
ENST00000682178.1:n.1210G>C
ENST00000682345.1:c.117G>C	ENSP00000508122.1:p.Glu39Asp
ENST00000682409.1:n.1874G>C
ENST00000682452.1:n.509G>C
ENST00000682456.1:c.178G>C	ENSP00000508240.1:p.Val60Leu
ENST00000682601.1:n.369G>C
ENST00000682734.1:c.-649-2395G>C	ENSP00000507860.1:n.-649-2395G>C
ENST00000682820.1:n.215G>C
ENST00000682910.1:n.485G>C
ENST00000683004.1:c.*15G>C	ENSP00000506936.1:n.*15G>C
ENST00000683079.1:c.178G>C	ENSP00000507296.1:p.Val60Leu
ENST00000683081.1:c.*15G>C	ENSP00000507722.1:n.*15G>C
ENST00000683305.1:c.-6G>C	ENSP00000508043.1:n.-6G>C
ENST00000683448.1:c.-90-2395G>C	ENSP00000506931.1:n.-90-2395G>C
ENST00000683478.1:c.178G>C	ENSP00000507793.1:p.Val60Leu
ENST00000683483.1:c.178G>C	ENSP00000507719.1:p.Val60Leu
ENST00000683750.1:n.301G>C
ENST00000683751.1:c.-90-2395G>C	ENSP00000506944.1:n.-90-2395G>C
ENST00000683799.1:n.1494G>C
ENST00000684036.1:c.-6G>C	ENSP00000507276.1:n.-6G>C
ENST00000684129.1:c.-694-2395G>C	ENSP00000507174.1:n.-694-2395G>C
ENST00000684209.1:n.418G>C
ENST00000684296.1:c.178G>C	ENSP00000507740.1:p.Val60Leu
ENST00000684505.1:c.178G>C	ENSP00000508237.1:p.Val60Leu
ENST00000684552.1:c.178G>C	ENSP00000506899.1:p.Val60Leu
ENST00000684611.1:n.1906G>C
ENST00000684622.1:c.178G>C	ENSP00000507546.1:p.Val60Leu
ENST00000684627.1:c.-6G>C	ENSP00000507471.1:n.-6G>C
ENST00000684641.1:c.178G>C	ENSP00000507642.1:p.Val60Leu
ENST00000684675.1:c.178G>C	ENSP00000506934.1:p.Val60Leu
ENST00000684749.1:n.247G>C
ENST00000511912.6:c.178G>C MANE Select	ENSP00000426638.1:p.Val60Leu
ENST00000307738.5:c.37G>C	ENSP00000303552.5:p.Val13Leu
ENST00000436096.2:n.363G>C
ENST00000506422.1:n.86+9707G>C
ENST00000507475.5:c.-90-2395G>C	ENSP00000422735.1:n.-90-2395G>C
ENST00000511912.5:c.178G>C	ENSP00000426638.1:p.Val60Leu
ENST00000514148.1:n.256G>C
NM_001281737.1:c.37G>C	NP_001268666.1:p.Val13Leu
NM_001281738.1:c.-6G>C	NP_001268667.1:n.-6G>C
NM_004453.3:c.178G>C	NP_004444.2:p.Val60Leu
XM_024453935.1:c.-6G>C	XP_024309703.1:n.-6G>C
NM_004453.4:c.178G>C MANE Select	NP_004444.2:p.Val60Leu
NM_001281737.2:c.37G>C	NP_001268666.1:p.Val13Leu