Canonical Allele Identifier: CA358566641

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158708435C>T , CM000666.2:g.158708435C>T	GRCh38
NC_000004.11:g.159629587C>T , CM000666.1:g.159629587C>T	GRCh37
NC_000004.10:g.159849037C>T	NCBI36
NG_007078.2:g.41094C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1762C>T MANE Select	NP_004444.2:p.His588Tyr
ENST00000511912.6:c.1762C>T MANE Select	ENSP00000426638.1:p.His588Tyr
NM_001281737.1:c.1621C>T	NP_001268666.1:p.His541Tyr
NM_001281737.2:c.1621C>T	NP_001268666.1:p.His541Tyr
NM_001281738.1:c.1579C>T	NP_001268667.1:p.His527Tyr
NM_004453.3:c.1762C>T	NP_004444.2:p.His588Tyr
ENST00000307738.5:c.1621C>T	ENSP00000303552.5:p.His541Tyr
ENST00000506422.1:n.732C>T
ENST00000511912.5:c.1762C>T	ENSP00000426638.1:p.His588Tyr
ENST00000681978.1:n.3298C>T
ENST00000682178.1:n.2794C>T
ENST00000682345.1:c.*1462C>T	ENSP00000508122.1:n.*1462C>T
ENST00000682452.1:n.2093C>T
ENST00000682456.1:c.1621C>T	ENSP00000508240.1:p.His541Tyr
ENST00000682566.1:n.2545C>T
ENST00000682613.1:n.2074C>T
ENST00000682734.1:c.589C>T	ENSP00000507860.1:p.His197Tyr
ENST00000682820.1:n.1799C>T
ENST00000683004.1:c.*1455C>T	ENSP00000506936.1:n.*1455C>T
ENST00000683079.1:c.*1187C>T	ENSP00000507296.1:n.*1187C>T
ENST00000683081.1:c.*1599C>T	ENSP00000507722.1:n.*1599C>T
ENST00000683181.1:n.1041C>T
ENST00000683209.1:n.4088C>T
ENST00000683305.1:c.1579C>T	ENSP00000508043.1:p.His527Tyr
ENST00000683448.1:c.*682C>T	ENSP00000506931.1:n.*682C>T
ENST00000683478.1:c.*1113C>T	ENSP00000507793.1:n.*1113C>T
ENST00000683483.1:c.1618C>T	ENSP00000507719.1:p.His540Tyr
ENST00000683622.1:n.2989C>T
ENST00000683751.1:c.1267C>T	ENSP00000506944.1:p.His423Tyr
ENST00000684036.1:c.1579C>T	ENSP00000507276.1:p.His527Tyr
ENST00000684129.1:c.589C>T	ENSP00000507174.1:p.His197Tyr
ENST00000684209.1:n.2137C>T
ENST00000684296.1:c.*682C>T	ENSP00000507740.1:n.*682C>T
ENST00000684505.1:c.1711C>T	ENSP00000508237.1:p.His571Tyr
ENST00000684552.1:c.*3181C>T	ENSP00000506899.1:n.*3181C>T
ENST00000684611.1:n.3490C>T
ENST00000684622.1:c.*122C>T	ENSP00000507546.1:n.*122C>T
ENST00000684627.1:c.1579C>T	ENSP00000507471.1:p.His527Tyr
ENST00000684641.1:c.1477C>T	ENSP00000507642.1:p.His493Tyr
ENST00000684675.1:c.*609C>T	ENSP00000506934.1:n.*609C>T
ENST00000684749.1:n.1831C>T
XM_024453935.1:c.1579C>T	XP_024309703.1:p.His527Tyr