Canonical Allele Identifier: CA358566887

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708483G>A , CM000666.2:g.158708483G>A	GRCh38
NC_000004.11:g.159629635G>A , CM000666.1:g.159629635G>A	GRCh37
NC_000004.10:g.159849085G>A	NCBI36
NG_007078.2:g.41142G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1810G>A MANE Select	NP_004444.2:p.Val604Met
ENST00000511912.6:c.1810G>A MANE Select	ENSP00000426638.1:p.Val604Met
NM_001281737.1:c.1669G>A	NP_001268666.1:p.Val557Met
NM_001281737.2:c.1669G>A	NP_001268666.1:p.Val557Met
NM_001281738.1:c.1627G>A	NP_001268667.1:p.Val543Met
NM_004453.3:c.1810G>A	NP_004444.2:p.Val604Met
ENST00000307738.5:c.1669G>A	ENSP00000303552.5:p.Val557Met
ENST00000506422.1:n.780G>A
ENST00000511912.5:c.1810G>A	ENSP00000426638.1:p.Val604Met
ENST00000681978.1:n.3346G>A
ENST00000682178.1:n.2842G>A
ENST00000682345.1:c.*1510G>A	ENSP00000508122.1:n.*1510G>A
ENST00000682452.1:n.2141G>A
ENST00000682456.1:c.1669G>A	ENSP00000508240.1:p.Val557Met
ENST00000682566.1:n.2593G>A
ENST00000682613.1:n.2122G>A
ENST00000682734.1:c.637G>A	ENSP00000507860.1:p.Val213Met
ENST00000682820.1:n.1847G>A
ENST00000683004.1:c.*1503G>A	ENSP00000506936.1:n.*1503G>A
ENST00000683079.1:c.*1235G>A	ENSP00000507296.1:n.*1235G>A
ENST00000683081.1:c.*1647G>A	ENSP00000507722.1:n.*1647G>A
ENST00000683181.1:n.1089G>A
ENST00000683209.1:n.4136G>A
ENST00000683305.1:c.1627G>A	ENSP00000508043.1:p.Val543Met
ENST00000683448.1:c.*730G>A	ENSP00000506931.1:n.*730G>A
ENST00000683478.1:c.*1161G>A	ENSP00000507793.1:n.*1161G>A
ENST00000683483.1:c.1666G>A	ENSP00000507719.1:p.Val556Met
ENST00000683622.1:n.3037G>A
ENST00000683751.1:c.1315G>A	ENSP00000506944.1:p.Val439Met
ENST00000684036.1:c.1627G>A	ENSP00000507276.1:p.Val543Met
ENST00000684129.1:c.637G>A	ENSP00000507174.1:p.Val213Met
ENST00000684209.1:n.2185G>A
ENST00000684296.1:c.*730G>A	ENSP00000507740.1:n.*730G>A
ENST00000684505.1:c.1759G>A	ENSP00000508237.1:p.Val587Met
ENST00000684552.1:c.*3229G>A	ENSP00000506899.1:n.*3229G>A
ENST00000684611.1:n.3538G>A
ENST00000684622.1:c.*170G>A	ENSP00000507546.1:n.*170G>A
ENST00000684627.1:c.1627G>A	ENSP00000507471.1:p.Val543Met
ENST00000684641.1:c.1525G>A	ENSP00000507642.1:p.Val509Met
ENST00000684675.1:c.*657G>A	ENSP00000506934.1:n.*657G>A
ENST00000684749.1:n.1879G>A
XM_024453935.1:c.1627G>A	XP_024309703.1:p.Val543Met