Canonical Allele Identifier: CA358562747

Gene: ETFDH

Linked Data

• MyVariant Identifiers: chr4:g.159624596C>G (hg19) ; chr4:g.158703444C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703444C>G , CM000666.2:g.158703444C>G	GRCh38
NC_000004.11:g.159624596C>G , CM000666.1:g.159624596C>G	GRCh37
NC_000004.10:g.159844046C>G	NCBI36
NG_007078.2:g.36103C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681978.1:n.2674C>G
ENST00000682178.1:n.2170C>G
ENST00000682345.1:c.*838C>G	ENSP00000508122.1:n.*838C>G
ENST00000682452.1:n.1469C>G
ENST00000682456.1:c.997C>G	ENSP00000508240.1:p.Pro333Ala
ENST00000682566.1:n.1921C>G
ENST00000682613.1:n.1450C>G
ENST00000682734.1:c.-36C>G	ENSP00000507860.1:n.-36C>G
ENST00000682820.1:n.1175C>G
ENST00000683004.1:c.*831C>G	ENSP00000506936.1:n.*831C>G
ENST00000683079.1:c.*563C>G	ENSP00000507296.1:n.*563C>G
ENST00000683081.1:c.*975C>G	ENSP00000507722.1:n.*975C>G
ENST00000683181.1:n.417C>G
ENST00000683209.1:n.3464C>G
ENST00000683305.1:c.955C>G	ENSP00000508043.1:p.Pro319Ala
ENST00000683448.1:c.*58C>G	ENSP00000506931.1:n.*58C>G
ENST00000683478.1:c.*489C>G	ENSP00000507793.1:n.*489C>G
ENST00000683483.1:c.994C>G	ENSP00000507719.1:p.Pro332Ala
ENST00000683622.1:n.852C>G
ENST00000683751.1:c.643C>G	ENSP00000506944.1:p.Pro215Ala
ENST00000684036.1:c.955C>G	ENSP00000507276.1:p.Pro319Ala
ENST00000684129.1:c.-36C>G	ENSP00000507174.1:n.-36C>G
ENST00000684209.1:n.1513C>G
ENST00000684296.1:c.*58C>G	ENSP00000507740.1:n.*58C>G
ENST00000684505.1:c.1087C>G	ENSP00000508237.1:p.Pro363Ala
ENST00000684552.1:c.*58C>G	ENSP00000506899.1:n.*58C>G
ENST00000684611.1:n.2866C>G
ENST00000684622.1:c.1138C>G	ENSP00000507546.1:p.Pro380Ala
ENST00000684627.1:c.955C>G	ENSP00000507471.1:p.Pro319Ala
ENST00000684641.1:c.853C>G	ENSP00000507642.1:p.Pro285Ala
ENST00000684675.1:c.1179C>G	ENSP00000506934.1:p.Phe393Leu
ENST00000684749.1:n.1207C>G
ENST00000511912.6:c.1138C>G MANE Select	ENSP00000426638.1:p.Pro380Ala
ENST00000307738.5:c.997C>G	ENSP00000303552.5:p.Pro333Ala
ENST00000506422.1:n.108C>G
ENST00000511912.5:c.1138C>G	ENSP00000426638.1:p.Pro380Ala
NM_001281737.1:c.997C>G	NP_001268666.1:p.Pro333Ala
NM_001281738.1:c.955C>G	NP_001268667.1:p.Pro319Ala
NM_004453.3:c.1138C>G	NP_004444.2:p.Pro380Ala
XM_024453935.1:c.955C>G	XP_024309703.1:p.Pro319Ala
NM_004453.4:c.1138C>G MANE Select	NP_004444.2:p.Pro380Ala
NM_001281737.2:c.997C>G	NP_001268666.1:p.Pro333Ala