Canonical Allele Identifier: CA442139560

Gene: ETFDH

Linked Data

• MyVariant Identifiers: chr4:g.159624592C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703440C>A , CM000666.2:g.158703440C>A	GRCh38
NC_000004.11:g.159624592C>A , CM000666.1:g.159624592C>A	GRCh37
NC_000004.10:g.159844042C>A	NCBI36
NG_007078.2:g.36099C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681978.1:n.2670C>A
ENST00000682178.1:n.2166C>A
ENST00000682345.1:c.*834C>A	ENSP00000508122.1:n.*834C>A
ENST00000682452.1:n.1465C>A
ENST00000682456.1:c.993C>A	ENSP00000508240.1:p.Thr331=
ENST00000682566.1:n.1917C>A
ENST00000682613.1:n.1446C>A
ENST00000682734.1:c.-40C>A	ENSP00000507860.1:n.-40C>A
ENST00000682820.1:n.1171C>A
ENST00000683004.1:c.*827C>A	ENSP00000506936.1:n.*827C>A
ENST00000683079.1:c.*559C>A	ENSP00000507296.1:n.*559C>A
ENST00000683081.1:c.*971C>A	ENSP00000507722.1:n.*971C>A
ENST00000683181.1:n.413C>A
ENST00000683209.1:n.3460C>A
ENST00000683305.1:c.951C>A	ENSP00000508043.1:p.Thr317=
ENST00000683448.1:c.*54C>A	ENSP00000506931.1:n.*54C>A
ENST00000683478.1:c.*485C>A	ENSP00000507793.1:n.*485C>A
ENST00000683483.1:c.990C>A	ENSP00000507719.1:p.Thr330=
ENST00000683622.1:n.848C>A
ENST00000683751.1:c.639C>A	ENSP00000506944.1:p.Thr213=
ENST00000684036.1:c.951C>A	ENSP00000507276.1:p.Thr317=
ENST00000684129.1:c.-40C>A	ENSP00000507174.1:n.-40C>A
ENST00000684209.1:n.1509C>A
ENST00000684296.1:c.*54C>A	ENSP00000507740.1:n.*54C>A
ENST00000684505.1:c.1083C>A	ENSP00000508237.1:p.Thr361=
ENST00000684552.1:c.*54C>A	ENSP00000506899.1:n.*54C>A
ENST00000684611.1:n.2862C>A
ENST00000684622.1:c.1134C>A	ENSP00000507546.1:p.Thr378=
ENST00000684627.1:c.951C>A	ENSP00000507471.1:p.Thr317=
ENST00000684641.1:c.849C>A	ENSP00000507642.1:p.Thr283=
ENST00000684675.1:c.1175C>A	ENSP00000506934.1:p.Pro392His
ENST00000684749.1:n.1203C>A
ENST00000511912.6:c.1134C>A MANE Select	ENSP00000426638.1:p.Thr378=
ENST00000307738.5:c.993C>A	ENSP00000303552.5:p.Thr331=
ENST00000506422.1:n.104C>A
ENST00000511912.5:c.1134C>A	ENSP00000426638.1:p.Thr378=
NM_001281737.1:c.993C>A	NP_001268666.1:p.Thr331=
NM_001281738.1:c.951C>A	NP_001268667.1:p.Thr317=
NM_004453.3:c.1134C>A	NP_004444.2:p.Thr378=
XM_024453935.1:c.951C>A	XP_024309703.1:p.Thr317=
NM_004453.4:c.1134C>A MANE Select	NP_004444.2:p.Thr378=
NM_001281737.2:c.993C>A	NP_001268666.1:p.Thr331=