Canonical Allele Identifier: CA3122571

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703517T>C , CM000666.2:g.158703517T>C	GRCh38
NC_000004.11:g.159624669T>C , CM000666.1:g.159624669T>C	GRCh37
NC_000004.10:g.159844119T>C	NCBI36
NG_007078.2:g.36176T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1211T>C MANE Select	NP_004444.2:p.Met404Thr
ENST00000511912.6:c.1211T>C MANE Select	ENSP00000426638.1:p.Met404Thr
NM_001281737.1:c.1070T>C	NP_001268666.1:p.Met357Thr
NM_001281737.2:c.1070T>C	NP_001268666.1:p.Met357Thr
NM_001281738.1:c.1028T>C	NP_001268667.1:p.Met343Thr
NM_004453.3:c.1211T>C	NP_004444.2:p.Met404Thr
ENST00000307738.5:c.1070T>C	ENSP00000303552.5:p.Met357Thr
ENST00000506422.1:n.181T>C
ENST00000511912.5:c.1211T>C	ENSP00000426638.1:p.Met404Thr
ENST00000681978.1:n.2747T>C
ENST00000682178.1:n.2243T>C
ENST00000682345.1:c.*911T>C	ENSP00000508122.1:n.*911T>C
ENST00000682452.1:n.1542T>C
ENST00000682456.1:c.1070T>C	ENSP00000508240.1:p.Met357Thr
ENST00000682566.1:n.1994T>C
ENST00000682613.1:n.1523T>C
ENST00000682734.1:c.38T>C	ENSP00000507860.1:p.Met13Thr
ENST00000682820.1:n.1248T>C
ENST00000683004.1:c.*904T>C	ENSP00000506936.1:n.*904T>C
ENST00000683079.1:c.*636T>C	ENSP00000507296.1:n.*636T>C
ENST00000683081.1:c.*1048T>C	ENSP00000507722.1:n.*1048T>C
ENST00000683181.1:n.490T>C
ENST00000683209.1:n.3537T>C
ENST00000683305.1:c.1028T>C	ENSP00000508043.1:p.Met343Thr
ENST00000683448.1:c.*131T>C	ENSP00000506931.1:n.*131T>C
ENST00000683478.1:c.*562T>C	ENSP00000507793.1:n.*562T>C
ENST00000683483.1:c.1067T>C	ENSP00000507719.1:p.Met356Thr
ENST00000683622.1:n.925T>C
ENST00000683751.1:c.716T>C	ENSP00000506944.1:p.Met239Thr
ENST00000684036.1:c.1028T>C	ENSP00000507276.1:p.Met343Thr
ENST00000684129.1:c.38T>C	ENSP00000507174.1:p.Met13Thr
ENST00000684209.1:n.1586T>C
ENST00000684296.1:c.*131T>C	ENSP00000507740.1:n.*131T>C
ENST00000684505.1:c.1160T>C	ENSP00000508237.1:p.Met387Thr
ENST00000684552.1:c.*131T>C	ENSP00000506899.1:n.*131T>C
ENST00000684611.1:n.2939T>C
ENST00000684622.1:c.1211T>C	ENSP00000507546.1:p.Met404Thr
ENST00000684627.1:c.1028T>C	ENSP00000507471.1:p.Met343Thr
ENST00000684641.1:c.926T>C	ENSP00000507642.1:p.Met309Thr
ENST00000684675.1:c.*58T>C	ENSP00000506934.1:n.*58T>C
ENST00000684749.1:n.1280T>C
XM_024453935.1:c.1028T>C	XP_024309703.1:p.Met343Thr