Canonical Allele Identifier: CA3122566

Gene: ETFDH

Linked Data

• dbSNP Id: rs753208083
• ExAC: 4:159624595 T / G
• gnomAD v2: 4-159624595-T-G
• MyVariant Identifiers: chr4:g.159624595T>G (hg19) ; chr4:g.158703443T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703443T>G , CM000666.2:g.158703443T>G	GRCh38
NC_000004.11:g.159624595T>G , CM000666.1:g.159624595T>G	GRCh37
NC_000004.10:g.159844045T>G	NCBI36
NG_007078.2:g.36102T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681978.1:n.2673T>G
ENST00000682178.1:n.2169T>G
ENST00000682345.1:c.*837T>G	ENSP00000508122.1:n.*837T>G
ENST00000682452.1:n.1468T>G
ENST00000682456.1:c.996T>G	ENSP00000508240.1:p.Phe332Leu
ENST00000682566.1:n.1920T>G
ENST00000682613.1:n.1449T>G
ENST00000682734.1:c.-37T>G	ENSP00000507860.1:n.-37T>G
ENST00000682820.1:n.1174T>G
ENST00000683004.1:c.*830T>G	ENSP00000506936.1:n.*830T>G
ENST00000683079.1:c.*562T>G	ENSP00000507296.1:n.*562T>G
ENST00000683081.1:c.*974T>G	ENSP00000507722.1:n.*974T>G
ENST00000683181.1:n.416T>G
ENST00000683209.1:n.3463T>G
ENST00000683305.1:c.954T>G	ENSP00000508043.1:p.Phe318Leu
ENST00000683448.1:c.*57T>G	ENSP00000506931.1:n.*57T>G
ENST00000683478.1:c.*488T>G	ENSP00000507793.1:n.*488T>G
ENST00000683483.1:c.993T>G	ENSP00000507719.1:p.Phe331Leu
ENST00000683622.1:n.851T>G
ENST00000683751.1:c.642T>G	ENSP00000506944.1:p.Phe214Leu
ENST00000684036.1:c.954T>G	ENSP00000507276.1:p.Phe318Leu
ENST00000684129.1:c.-37T>G	ENSP00000507174.1:n.-37T>G
ENST00000684209.1:n.1512T>G
ENST00000684296.1:c.*57T>G	ENSP00000507740.1:n.*57T>G
ENST00000684505.1:c.1086T>G	ENSP00000508237.1:p.Phe362Leu
ENST00000684552.1:c.*57T>G	ENSP00000506899.1:n.*57T>G
ENST00000684611.1:n.2865T>G
ENST00000684622.1:c.1137T>G	ENSP00000507546.1:p.Phe379Leu
ENST00000684627.1:c.954T>G	ENSP00000507471.1:p.Phe318Leu
ENST00000684641.1:c.852T>G	ENSP00000507642.1:p.Phe284Leu
ENST00000684675.1:c.1178T>G	ENSP00000506934.1:p.Phe393Cys
ENST00000684749.1:n.1206T>G
ENST00000511912.6:c.1137T>G MANE Select	ENSP00000426638.1:p.Phe379Leu
ENST00000307738.5:c.996T>G	ENSP00000303552.5:p.Phe332Leu
ENST00000506422.1:n.107T>G
ENST00000511912.5:c.1137T>G	ENSP00000426638.1:p.Phe379Leu
NM_001281737.1:c.996T>G	NP_001268666.1:p.Phe332Leu
NM_001281738.1:c.954T>G	NP_001268667.1:p.Phe318Leu
NM_004453.3:c.1137T>G	NP_004444.2:p.Phe379Leu
XM_024453935.1:c.954T>G	XP_024309703.1:p.Phe318Leu
NM_004453.4:c.1137T>G MANE Select	NP_004444.2:p.Phe379Leu
NM_001281737.2:c.996T>G	NP_001268666.1:p.Phe332Leu