Canonical Allele Identifier: CA442139567

Gene: ETFDH

Linked Data

• MyVariant Identifiers: chr4:g.159624601T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703449T>A , CM000666.2:g.158703449T>A	GRCh38
NC_000004.11:g.159624601T>A , CM000666.1:g.159624601T>A	GRCh37
NC_000004.10:g.159844051T>A	NCBI36
NG_007078.2:g.36108T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681978.1:n.2679T>A
ENST00000682178.1:n.2175T>A
ENST00000682345.1:c.*843T>A	ENSP00000508122.1:n.*843T>A
ENST00000682452.1:n.1474T>A
ENST00000682456.1:c.1002T>A	ENSP00000508240.1:p.Gly334=
ENST00000682566.1:n.1926T>A
ENST00000682613.1:n.1455T>A
ENST00000682734.1:c.-31T>A	ENSP00000507860.1:n.-31T>A
ENST00000682820.1:n.1180T>A
ENST00000683004.1:c.*836T>A	ENSP00000506936.1:n.*836T>A
ENST00000683079.1:c.*568T>A	ENSP00000507296.1:n.*568T>A
ENST00000683081.1:c.*980T>A	ENSP00000507722.1:n.*980T>A
ENST00000683181.1:n.422T>A
ENST00000683209.1:n.3469T>A
ENST00000683305.1:c.960T>A	ENSP00000508043.1:p.Gly320=
ENST00000683448.1:c.*63T>A	ENSP00000506931.1:n.*63T>A
ENST00000683478.1:c.*494T>A	ENSP00000507793.1:n.*494T>A
ENST00000683483.1:c.999T>A	ENSP00000507719.1:p.Gly333=
ENST00000683622.1:n.857T>A
ENST00000683751.1:c.648T>A	ENSP00000506944.1:p.Gly216=
ENST00000684036.1:c.960T>A	ENSP00000507276.1:p.Gly320=
ENST00000684129.1:c.-31T>A	ENSP00000507174.1:n.-31T>A
ENST00000684209.1:n.1518T>A
ENST00000684296.1:c.*63T>A	ENSP00000507740.1:n.*63T>A
ENST00000684505.1:c.1092T>A	ENSP00000508237.1:p.Gly364=
ENST00000684552.1:c.*63T>A	ENSP00000506899.1:n.*63T>A
ENST00000684611.1:n.2871T>A
ENST00000684622.1:c.1143T>A	ENSP00000507546.1:p.Gly381=
ENST00000684627.1:c.960T>A	ENSP00000507471.1:p.Gly320=
ENST00000684641.1:c.858T>A	ENSP00000507642.1:p.Gly286=
ENST00000684675.1:c.1184T>A	ENSP00000506934.1:p.Val395Glu
ENST00000684749.1:n.1212T>A
ENST00000511912.6:c.1143T>A MANE Select	ENSP00000426638.1:p.Gly381=
ENST00000307738.5:c.1002T>A	ENSP00000303552.5:p.Gly334=
ENST00000506422.1:n.113T>A
ENST00000511912.5:c.1143T>A	ENSP00000426638.1:p.Gly381=
NM_001281737.1:c.1002T>A	NP_001268666.1:p.Gly334=
NM_001281738.1:c.960T>A	NP_001268667.1:p.Gly320=
NM_004453.3:c.1143T>A	NP_004444.2:p.Gly381=
XM_024453935.1:c.960T>A	XP_024309703.1:p.Gly320=
NM_004453.4:c.1143T>A MANE Select	NP_004444.2:p.Gly381=
NM_001281737.2:c.1002T>A	NP_001268666.1:p.Gly334=