Canonical Allele Identifier: CA442139841

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706813G>A , CM000666.2:g.158706813G>A	GRCh38
NC_000004.11:g.159627965G>A , CM000666.1:g.159627965G>A	GRCh37
NC_000004.10:g.159847415G>A	NCBI36
NG_007078.2:g.39472G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1653G>A MANE Select	NP_004444.2:p.Ser551=
ENST00000511912.6:c.1653G>A MANE Select	ENSP00000426638.1:p.Ser551=
NM_001281737.1:c.1512G>A	NP_001268666.1:p.Ser504=
NM_001281737.2:c.1512G>A	NP_001268666.1:p.Ser504=
NM_001281738.1:c.1470G>A	NP_001268667.1:p.Ser490=
NM_004453.3:c.1653G>A	NP_004444.2:p.Ser551=
ENST00000307738.5:c.1512G>A	ENSP00000303552.5:p.Ser504=
ENST00000506422.1:n.623G>A
ENST00000511912.5:c.1653G>A	ENSP00000426638.1:p.Ser551=
ENST00000681978.1:n.3189G>A
ENST00000682178.1:n.2685G>A
ENST00000682345.1:c.*1353G>A	ENSP00000508122.1:n.*1353G>A
ENST00000682452.1:n.1984G>A
ENST00000682456.1:c.1512G>A	ENSP00000508240.1:p.Ser504=
ENST00000682566.1:n.2436G>A
ENST00000682613.1:n.1965G>A
ENST00000682734.1:c.480G>A	ENSP00000507860.1:p.Ser160=
ENST00000682820.1:n.1690G>A
ENST00000683004.1:c.*1346G>A	ENSP00000506936.1:n.*1346G>A
ENST00000683079.1:c.*1078G>A	ENSP00000507296.1:n.*1078G>A
ENST00000683081.1:c.*1490G>A	ENSP00000507722.1:n.*1490G>A
ENST00000683181.1:n.932G>A
ENST00000683209.1:n.3979G>A
ENST00000683305.1:c.1470G>A	ENSP00000508043.1:p.Ser490=
ENST00000683448.1:c.*573G>A	ENSP00000506931.1:n.*573G>A
ENST00000683478.1:c.*1004G>A	ENSP00000507793.1:n.*1004G>A
ENST00000683483.1:c.1509G>A	ENSP00000507719.1:p.Ser503=
ENST00000683622.1:n.1367G>A
ENST00000683751.1:c.1158G>A	ENSP00000506944.1:p.Ser386=
ENST00000684036.1:c.1470G>A	ENSP00000507276.1:p.Ser490=
ENST00000684129.1:c.480G>A	ENSP00000507174.1:p.Ser160=
ENST00000684209.1:n.2028G>A
ENST00000684296.1:c.*573G>A	ENSP00000507740.1:n.*573G>A
ENST00000684505.1:c.1602G>A	ENSP00000508237.1:p.Ser534=
ENST00000684552.1:c.*3072G>A	ENSP00000506899.1:n.*3072G>A
ENST00000684611.1:n.3381G>A
ENST00000684622.1:c.1653G>A	ENSP00000507546.1:p.Ser551=
ENST00000684627.1:c.1470G>A	ENSP00000507471.1:p.Ser490=
ENST00000684641.1:c.1368G>A	ENSP00000507642.1:p.Ser456=
ENST00000684675.1:c.*500G>A	ENSP00000506934.1:n.*500G>A
ENST00000684749.1:n.1722G>A
XM_024453935.1:c.1470G>A	XP_024309703.1:p.Ser490=