Canonical Allele Identifier: CA312543

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158706254G>C , CM000666.2:g.158706254G>C	GRCh38
NC_000004.11:g.159627406G>C , CM000666.1:g.159627406G>C	GRCh37
NC_000004.10:g.159846856G>C	NCBI36
NG_007078.2:g.38913G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1351G>C MANE Select	NP_004444.2:p.Val451Leu
ENST00000511912.6:c.1351G>C MANE Select	ENSP00000426638.1:p.Val451Leu
NM_001281737.1:c.1210G>C	NP_001268666.1:p.Val404Leu
NM_001281737.2:c.1210G>C	NP_001268666.1:p.Val404Leu
NM_001281738.1:c.1168G>C	NP_001268667.1:p.Val390Leu
NM_004453.3:c.1351G>C	NP_004444.2:p.Val451Leu
ENST00000307738.5:c.1210G>C	ENSP00000303552.5:p.Val404Leu
ENST00000506422.1:n.321G>C
ENST00000511912.5:c.1351G>C	ENSP00000426638.1:p.Val451Leu
ENST00000681978.1:n.2887G>C
ENST00000682178.1:n.2383G>C
ENST00000682345.1:c.*1051G>C	ENSP00000508122.1:n.*1051G>C
ENST00000682452.1:n.1682G>C
ENST00000682456.1:c.1210G>C	ENSP00000508240.1:p.Val404Leu
ENST00000682566.1:n.2134G>C
ENST00000682613.1:n.1663G>C
ENST00000682734.1:c.178G>C	ENSP00000507860.1:p.Val60Leu
ENST00000682820.1:n.1388G>C
ENST00000683004.1:c.*1044G>C	ENSP00000506936.1:n.*1044G>C
ENST00000683079.1:c.*776G>C	ENSP00000507296.1:n.*776G>C
ENST00000683081.1:c.*1188G>C	ENSP00000507722.1:n.*1188G>C
ENST00000683181.1:n.630G>C
ENST00000683209.1:n.3677G>C
ENST00000683305.1:c.1168G>C	ENSP00000508043.1:p.Val390Leu
ENST00000683448.1:c.*271G>C	ENSP00000506931.1:n.*271G>C
ENST00000683478.1:c.*702G>C	ENSP00000507793.1:n.*702G>C
ENST00000683483.1:c.1207G>C	ENSP00000507719.1:p.Val403Leu
ENST00000683622.1:n.1065G>C
ENST00000683751.1:c.856G>C	ENSP00000506944.1:p.Val286Leu
ENST00000684036.1:c.1168G>C	ENSP00000507276.1:p.Val390Leu
ENST00000684129.1:c.178G>C	ENSP00000507174.1:p.Val60Leu
ENST00000684209.1:n.1726G>C
ENST00000684296.1:c.*271G>C	ENSP00000507740.1:n.*271G>C
ENST00000684505.1:c.1300G>C	ENSP00000508237.1:p.Val434Leu
ENST00000684552.1:c.*2770G>C	ENSP00000506899.1:n.*2770G>C
ENST00000684611.1:n.3079G>C
ENST00000684622.1:c.1351G>C	ENSP00000507546.1:p.Val451Leu
ENST00000684627.1:c.1168G>C	ENSP00000507471.1:p.Val390Leu
ENST00000684641.1:c.1066G>C	ENSP00000507642.1:p.Val356Leu
ENST00000684675.1:c.*198G>C	ENSP00000506934.1:n.*198G>C
ENST00000684749.1:n.1420G>C
XM_024453935.1:c.1168G>C	XP_024309703.1:p.Val390Leu