Canonical Allele Identifier: CA358562726

Gene: ETFDH

Linked Data

• gnomAD v4: 4-158703438-A-C
• MyVariant Identifiers: chr4:g.159624590A>C (hg19) ; chr4:g.158703438A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703438A>C , CM000666.2:g.158703438A>C	GRCh38
NC_000004.11:g.159624590A>C , CM000666.1:g.159624590A>C	GRCh37
NC_000004.10:g.159844040A>C	NCBI36
NG_007078.2:g.36097A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681978.1:n.2668A>C
ENST00000682178.1:n.2164A>C
ENST00000682345.1:c.*832A>C	ENSP00000508122.1:n.*832A>C
ENST00000682452.1:n.1463A>C
ENST00000682456.1:c.991A>C	ENSP00000508240.1:p.Thr331Pro
ENST00000682566.1:n.1915A>C
ENST00000682613.1:n.1444A>C
ENST00000682734.1:c.-42A>C	ENSP00000507860.1:n.-42A>C
ENST00000682820.1:n.1169A>C
ENST00000683004.1:c.*825A>C	ENSP00000506936.1:n.*825A>C
ENST00000683079.1:c.*557A>C	ENSP00000507296.1:n.*557A>C
ENST00000683081.1:c.*969A>C	ENSP00000507722.1:n.*969A>C
ENST00000683181.1:n.411A>C
ENST00000683209.1:n.3458A>C
ENST00000683305.1:c.949A>C	ENSP00000508043.1:p.Thr317Pro
ENST00000683448.1:c.*52A>C	ENSP00000506931.1:n.*52A>C
ENST00000683478.1:c.*483A>C	ENSP00000507793.1:n.*483A>C
ENST00000683483.1:c.988A>C	ENSP00000507719.1:p.Thr330Pro
ENST00000683622.1:n.846A>C
ENST00000683751.1:c.637A>C	ENSP00000506944.1:p.Thr213Pro
ENST00000684036.1:c.949A>C	ENSP00000507276.1:p.Thr317Pro
ENST00000684129.1:c.-42A>C	ENSP00000507174.1:n.-42A>C
ENST00000684209.1:n.1507A>C
ENST00000684296.1:c.*52A>C	ENSP00000507740.1:n.*52A>C
ENST00000684505.1:c.1081A>C	ENSP00000508237.1:p.Thr361Pro
ENST00000684552.1:c.*52A>C	ENSP00000506899.1:n.*52A>C
ENST00000684611.1:n.2860A>C
ENST00000684622.1:c.1132A>C	ENSP00000507546.1:p.Thr378Pro
ENST00000684627.1:c.949A>C	ENSP00000507471.1:p.Thr317Pro
ENST00000684641.1:c.847A>C	ENSP00000507642.1:p.Thr283Pro
ENST00000684675.1:c.1173A>C	ENSP00000506934.1:p.Ser391=
ENST00000684749.1:n.1201A>C
ENST00000511912.6:c.1132A>C MANE Select	ENSP00000426638.1:p.Thr378Pro
ENST00000307738.5:c.991A>C	ENSP00000303552.5:p.Thr331Pro
ENST00000506422.1:n.102A>C
ENST00000511912.5:c.1132A>C	ENSP00000426638.1:p.Thr378Pro
NM_001281737.1:c.991A>C	NP_001268666.1:p.Thr331Pro
NM_001281738.1:c.949A>C	NP_001268667.1:p.Thr317Pro
NM_004453.3:c.1132A>C	NP_004444.2:p.Thr378Pro
XM_024453935.1:c.949A>C	XP_024309703.1:p.Thr317Pro
NM_004453.4:c.1132A>C MANE Select	NP_004444.2:p.Thr378Pro
NM_001281737.2:c.991A>C	NP_001268666.1:p.Thr331Pro