Canonical Allele Identifier: CA358575218

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158684675T>A , CM000666.2:g.158684675T>A	GRCh38
NC_000004.11:g.159605827T>A , CM000666.1:g.159605827T>A	GRCh37
NC_000004.10:g.159825277T>A	NCBI36
NG_007078.2:g.17334T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.487+2T>A MANE Select	NP_004444.2:n.487+2T>A
ENST00000511912.6:c.487+2T>A MANE Select	ENSP00000426638.1:n.487+2T>A
NM_001281737.1:c.346+2T>A	NP_001268666.1:n.346+2T>A
NM_001281737.2:c.346+2T>A	NP_001268666.1:n.346+2T>A
NM_001281738.1:c.304+2T>A	NP_001268667.1:n.304+2T>A
NM_004453.3:c.487+2T>A	NP_004444.2:n.487+2T>A
ENST00000307738.5:c.346+2T>A	ENSP00000303552.5:n.346+2T>A
ENST00000506422.1:n.86+12185T>A
ENST00000507475.5:c.-9+2T>A	ENSP00000422735.1:n.-9+2T>A
ENST00000507475.6:n.260+2T>A
ENST00000511912.5:c.487+2T>A	ENSP00000426638.1:n.487+2T>A
ENST00000514148.1:n.567T>A
ENST00000681978.1:n.736+2T>A
ENST00000682178.1:n.1519+2T>A
ENST00000682345.1:c.*306+2T>A	ENSP00000508122.1:n.*306+2T>A
ENST00000682452.1:n.818+2T>A
ENST00000682456.1:c.487+2T>A	ENSP00000508240.1:n.487+2T>A
ENST00000682601.1:n.678+2T>A
ENST00000682734.1:c.-568+2T>A	ENSP00000507860.1:n.-568+2T>A
ENST00000682820.1:n.524+2T>A
ENST00000682910.1:n.794+2T>A
ENST00000683004.1:c.*324+2T>A	ENSP00000506936.1:n.*324+2T>A
ENST00000683079.1:c.487+2T>A	ENSP00000507296.1:n.487+2T>A
ENST00000683081.1:c.*324+2T>A	ENSP00000507722.1:n.*324+2T>A
ENST00000683123.1:n.111T>A
ENST00000683305.1:c.304+2T>A	ENSP00000508043.1:n.304+2T>A
ENST00000683448.1:c.-9+2T>A	ENSP00000506931.1:n.-9+2T>A
ENST00000683478.1:c.487+2T>A	ENSP00000507793.1:n.487+2T>A
ENST00000683483.1:c.487+2T>A	ENSP00000507719.1:n.487+2T>A
ENST00000683750.1:n.610+2T>A
ENST00000683751.1:c.-9+2T>A	ENSP00000506944.1:n.-9+2T>A
ENST00000684036.1:c.304+2T>A	ENSP00000507276.1:n.304+2T>A
ENST00000684129.1:c.-613+2T>A	ENSP00000507174.1:n.-613+2T>A
ENST00000684209.1:n.727+2T>A
ENST00000684296.1:c.487+2T>A	ENSP00000507740.1:n.487+2T>A
ENST00000684505.1:c.487+2T>A	ENSP00000508237.1:n.487+2T>A
ENST00000684552.1:c.487+2T>A	ENSP00000506899.1:n.487+2T>A
ENST00000684611.1:n.2215+2T>A
ENST00000684622.1:c.487+2T>A	ENSP00000507546.1:n.487+2T>A
ENST00000684627.1:c.304+2T>A	ENSP00000507471.1:n.304+2T>A
ENST00000684641.1:c.487+2T>A	ENSP00000507642.1:n.487+2T>A
ENST00000684675.1:c.487+2T>A	ENSP00000506934.1:n.487+2T>A
ENST00000684749.1:n.556+2T>A
XM_024453935.1:c.304+2T>A	XP_024309703.1:n.304+2T>A