Canonical Allele Identifier: CA358562730

Gene: ETFDH

Linked Data

• MyVariant Identifiers: chr4:g.159624591C>A (hg19) ; chr4:g.158703439C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703439C>A , CM000666.2:g.158703439C>A	GRCh38
NC_000004.11:g.159624591C>A , CM000666.1:g.159624591C>A	GRCh37
NC_000004.10:g.159844041C>A	NCBI36
NG_007078.2:g.36098C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681978.1:n.2669C>A
ENST00000682178.1:n.2165C>A
ENST00000682345.1:c.*833C>A	ENSP00000508122.1:n.*833C>A
ENST00000682452.1:n.1464C>A
ENST00000682456.1:c.992C>A	ENSP00000508240.1:p.Thr331Asn
ENST00000682566.1:n.1916C>A
ENST00000682613.1:n.1445C>A
ENST00000682734.1:c.-41C>A	ENSP00000507860.1:n.-41C>A
ENST00000682820.1:n.1170C>A
ENST00000683004.1:c.*826C>A	ENSP00000506936.1:n.*826C>A
ENST00000683079.1:c.*558C>A	ENSP00000507296.1:n.*558C>A
ENST00000683081.1:c.*970C>A	ENSP00000507722.1:n.*970C>A
ENST00000683181.1:n.412C>A
ENST00000683209.1:n.3459C>A
ENST00000683305.1:c.950C>A	ENSP00000508043.1:p.Thr317Asn
ENST00000683448.1:c.*53C>A	ENSP00000506931.1:n.*53C>A
ENST00000683478.1:c.*484C>A	ENSP00000507793.1:n.*484C>A
ENST00000683483.1:c.989C>A	ENSP00000507719.1:p.Thr330Asn
ENST00000683622.1:n.847C>A
ENST00000683751.1:c.638C>A	ENSP00000506944.1:p.Thr213Asn
ENST00000684036.1:c.950C>A	ENSP00000507276.1:p.Thr317Asn
ENST00000684129.1:c.-41C>A	ENSP00000507174.1:n.-41C>A
ENST00000684209.1:n.1508C>A
ENST00000684296.1:c.*53C>A	ENSP00000507740.1:n.*53C>A
ENST00000684505.1:c.1082C>A	ENSP00000508237.1:p.Thr361Asn
ENST00000684552.1:c.*53C>A	ENSP00000506899.1:n.*53C>A
ENST00000684611.1:n.2861C>A
ENST00000684622.1:c.1133C>A	ENSP00000507546.1:p.Thr378Asn
ENST00000684627.1:c.950C>A	ENSP00000507471.1:p.Thr317Asn
ENST00000684641.1:c.848C>A	ENSP00000507642.1:p.Thr283Asn
ENST00000684675.1:c.1174C>A	ENSP00000506934.1:p.Pro392Thr
ENST00000684749.1:n.1202C>A
ENST00000511912.6:c.1133C>A MANE Select	ENSP00000426638.1:p.Thr378Asn
ENST00000307738.5:c.992C>A	ENSP00000303552.5:p.Thr331Asn
ENST00000506422.1:n.103C>A
ENST00000511912.5:c.1133C>A	ENSP00000426638.1:p.Thr378Asn
NM_001281737.1:c.992C>A	NP_001268666.1:p.Thr331Asn
NM_001281738.1:c.950C>A	NP_001268667.1:p.Thr317Asn
NM_004453.3:c.1133C>A	NP_004444.2:p.Thr378Asn
XM_024453935.1:c.950C>A	XP_024309703.1:p.Thr317Asn
NM_004453.4:c.1133C>A MANE Select	NP_004444.2:p.Thr378Asn
NM_001281737.2:c.992C>A	NP_001268666.1:p.Thr331Asn