Canonical Allele Identifier: CA358562735

Gene: ETFDH

Linked Data

• MyVariant Identifiers: chr4:g.159624593T>A (hg19) ; chr4:g.158703441T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703441T>A , CM000666.2:g.158703441T>A	GRCh38
NC_000004.11:g.159624593T>A , CM000666.1:g.159624593T>A	GRCh37
NC_000004.10:g.159844043T>A	NCBI36
NG_007078.2:g.36100T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681978.1:n.2671T>A
ENST00000682178.1:n.2167T>A
ENST00000682345.1:c.*835T>A	ENSP00000508122.1:n.*835T>A
ENST00000682452.1:n.1466T>A
ENST00000682456.1:c.994T>A	ENSP00000508240.1:p.Phe332Ile
ENST00000682566.1:n.1918T>A
ENST00000682613.1:n.1447T>A
ENST00000682734.1:c.-39T>A	ENSP00000507860.1:n.-39T>A
ENST00000682820.1:n.1172T>A
ENST00000683004.1:c.*828T>A	ENSP00000506936.1:n.*828T>A
ENST00000683079.1:c.*560T>A	ENSP00000507296.1:n.*560T>A
ENST00000683081.1:c.*972T>A	ENSP00000507722.1:n.*972T>A
ENST00000683181.1:n.414T>A
ENST00000683209.1:n.3461T>A
ENST00000683305.1:c.952T>A	ENSP00000508043.1:p.Phe318Ile
ENST00000683448.1:c.*55T>A	ENSP00000506931.1:n.*55T>A
ENST00000683478.1:c.*486T>A	ENSP00000507793.1:n.*486T>A
ENST00000683483.1:c.991T>A	ENSP00000507719.1:p.Phe331Ile
ENST00000683622.1:n.849T>A
ENST00000683751.1:c.640T>A	ENSP00000506944.1:p.Phe214Ile
ENST00000684036.1:c.952T>A	ENSP00000507276.1:p.Phe318Ile
ENST00000684129.1:c.-39T>A	ENSP00000507174.1:n.-39T>A
ENST00000684209.1:n.1510T>A
ENST00000684296.1:c.*55T>A	ENSP00000507740.1:n.*55T>A
ENST00000684505.1:c.1084T>A	ENSP00000508237.1:p.Phe362Ile
ENST00000684552.1:c.*55T>A	ENSP00000506899.1:n.*55T>A
ENST00000684611.1:n.2863T>A
ENST00000684622.1:c.1135T>A	ENSP00000507546.1:p.Phe379Ile
ENST00000684627.1:c.952T>A	ENSP00000507471.1:p.Phe318Ile
ENST00000684641.1:c.850T>A	ENSP00000507642.1:p.Phe284Ile
ENST00000684675.1:c.1176T>A	ENSP00000506934.1:p.Pro392=
ENST00000684749.1:n.1204T>A
ENST00000511912.6:c.1135T>A MANE Select	ENSP00000426638.1:p.Phe379Ile
ENST00000307738.5:c.994T>A	ENSP00000303552.5:p.Phe332Ile
ENST00000506422.1:n.105T>A
ENST00000511912.5:c.1135T>A	ENSP00000426638.1:p.Phe379Ile
NM_001281737.1:c.994T>A	NP_001268666.1:p.Phe332Ile
NM_001281738.1:c.952T>A	NP_001268667.1:p.Phe318Ile
NM_004453.3:c.1135T>A	NP_004444.2:p.Phe379Ile
XM_024453935.1:c.952T>A	XP_024309703.1:p.Phe318Ile
NM_004453.4:c.1135T>A MANE Select	NP_004444.2:p.Phe379Ile
NM_001281737.2:c.994T>A	NP_001268666.1:p.Phe332Ile