Canonical Allele Identifier: CA358562959

Gene: ETFDH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703516A>C , CM000666.2:g.158703516A>C	GRCh38
NC_000004.11:g.159624668A>C , CM000666.1:g.159624668A>C	GRCh37
NC_000004.10:g.159844118A>C	NCBI36
NG_007078.2:g.36175A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004453.4:c.1210A>C MANE Select	NP_004444.2:p.Met404Leu
ENST00000511912.6:c.1210A>C MANE Select	ENSP00000426638.1:p.Met404Leu
NM_001281737.1:c.1069A>C	NP_001268666.1:p.Met357Leu
NM_001281737.2:c.1069A>C	NP_001268666.1:p.Met357Leu
NM_001281738.1:c.1027A>C	NP_001268667.1:p.Met343Leu
NM_004453.3:c.1210A>C	NP_004444.2:p.Met404Leu
ENST00000307738.5:c.1069A>C	ENSP00000303552.5:p.Met357Leu
ENST00000506422.1:n.180A>C
ENST00000511912.5:c.1210A>C	ENSP00000426638.1:p.Met404Leu
ENST00000681978.1:n.2746A>C
ENST00000682178.1:n.2242A>C
ENST00000682345.1:c.*910A>C	ENSP00000508122.1:n.*910A>C
ENST00000682452.1:n.1541A>C
ENST00000682456.1:c.1069A>C	ENSP00000508240.1:p.Met357Leu
ENST00000682566.1:n.1993A>C
ENST00000682613.1:n.1522A>C
ENST00000682734.1:c.37A>C	ENSP00000507860.1:p.Met13Leu
ENST00000682820.1:n.1247A>C
ENST00000683004.1:c.*903A>C	ENSP00000506936.1:n.*903A>C
ENST00000683079.1:c.*635A>C	ENSP00000507296.1:n.*635A>C
ENST00000683081.1:c.*1047A>C	ENSP00000507722.1:n.*1047A>C
ENST00000683181.1:n.489A>C
ENST00000683209.1:n.3536A>C
ENST00000683305.1:c.1027A>C	ENSP00000508043.1:p.Met343Leu
ENST00000683448.1:c.*130A>C	ENSP00000506931.1:n.*130A>C
ENST00000683478.1:c.*561A>C	ENSP00000507793.1:n.*561A>C
ENST00000683483.1:c.1066A>C	ENSP00000507719.1:p.Met356Leu
ENST00000683622.1:n.924A>C
ENST00000683751.1:c.715A>C	ENSP00000506944.1:p.Met239Leu
ENST00000684036.1:c.1027A>C	ENSP00000507276.1:p.Met343Leu
ENST00000684129.1:c.37A>C	ENSP00000507174.1:p.Met13Leu
ENST00000684209.1:n.1585A>C
ENST00000684296.1:c.*130A>C	ENSP00000507740.1:n.*130A>C
ENST00000684505.1:c.1159A>C	ENSP00000508237.1:p.Met387Leu
ENST00000684552.1:c.*130A>C	ENSP00000506899.1:n.*130A>C
ENST00000684611.1:n.2938A>C
ENST00000684622.1:c.1210A>C	ENSP00000507546.1:p.Met404Leu
ENST00000684627.1:c.1027A>C	ENSP00000507471.1:p.Met343Leu
ENST00000684641.1:c.925A>C	ENSP00000507642.1:p.Met309Leu
ENST00000684675.1:c.*57A>C	ENSP00000506934.1:n.*57A>C
ENST00000684749.1:n.1279A>C
XM_024453935.1:c.1027A>C	XP_024309703.1:p.Met343Leu