Canonical Allele Identifier: CA358566765

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708459G>A , CM000666.2:g.158708459G>A	GRCh38
NC_000004.11:g.159629611G>A , CM000666.1:g.159629611G>A	GRCh37
NC_000004.10:g.159849061G>A	NCBI36
NG_007078.2:g.41118G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1786G>A MANE Select	NP_004444.2:p.Asp596Asn
ENST00000511912.6:c.1786G>A MANE Select	ENSP00000426638.1:p.Asp596Asn
NM_001281737.1:c.1645G>A	NP_001268666.1:p.Asp549Asn
NM_001281737.2:c.1645G>A	NP_001268666.1:p.Asp549Asn
NM_001281738.1:c.1603G>A	NP_001268667.1:p.Asp535Asn
NM_004453.3:c.1786G>A	NP_004444.2:p.Asp596Asn
ENST00000307738.5:c.1645G>A	ENSP00000303552.5:p.Asp549Asn
ENST00000506422.1:n.756G>A
ENST00000511912.5:c.1786G>A	ENSP00000426638.1:p.Asp596Asn
ENST00000681978.1:n.3322G>A
ENST00000682178.1:n.2818G>A
ENST00000682345.1:c.*1486G>A	ENSP00000508122.1:n.*1486G>A
ENST00000682452.1:n.2117G>A
ENST00000682456.1:c.1645G>A	ENSP00000508240.1:p.Asp549Asn
ENST00000682566.1:n.2569G>A
ENST00000682613.1:n.2098G>A
ENST00000682734.1:c.613G>A	ENSP00000507860.1:p.Asp205Asn
ENST00000682820.1:n.1823G>A
ENST00000683004.1:c.*1479G>A	ENSP00000506936.1:n.*1479G>A
ENST00000683079.1:c.*1211G>A	ENSP00000507296.1:n.*1211G>A
ENST00000683081.1:c.*1623G>A	ENSP00000507722.1:n.*1623G>A
ENST00000683181.1:n.1065G>A
ENST00000683209.1:n.4112G>A
ENST00000683305.1:c.1603G>A	ENSP00000508043.1:p.Asp535Asn
ENST00000683448.1:c.*706G>A	ENSP00000506931.1:n.*706G>A
ENST00000683478.1:c.*1137G>A	ENSP00000507793.1:n.*1137G>A
ENST00000683483.1:c.1642G>A	ENSP00000507719.1:p.Asp548Asn
ENST00000683622.1:n.3013G>A
ENST00000683751.1:c.1291G>A	ENSP00000506944.1:p.Asp431Asn
ENST00000684036.1:c.1603G>A	ENSP00000507276.1:p.Asp535Asn
ENST00000684129.1:c.613G>A	ENSP00000507174.1:p.Asp205Asn
ENST00000684209.1:n.2161G>A
ENST00000684296.1:c.*706G>A	ENSP00000507740.1:n.*706G>A
ENST00000684505.1:c.1735G>A	ENSP00000508237.1:p.Asp579Asn
ENST00000684552.1:c.*3205G>A	ENSP00000506899.1:n.*3205G>A
ENST00000684611.1:n.3514G>A
ENST00000684622.1:c.*146G>A	ENSP00000507546.1:n.*146G>A
ENST00000684627.1:c.1603G>A	ENSP00000507471.1:p.Asp535Asn
ENST00000684641.1:c.1501G>A	ENSP00000507642.1:p.Asp501Asn
ENST00000684675.1:c.*633G>A	ENSP00000506934.1:n.*633G>A
ENST00000684749.1:n.1855G>A
XM_024453935.1:c.1603G>A	XP_024309703.1:p.Asp535Asn