Canonical Allele Identifier: CA358562761

Gene: ETFDH

Linked Data

• MyVariant Identifiers: chr4:g.159624600G>T (hg19) ; chr4:g.158703448G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703448G>T , CM000666.2:g.158703448G>T	GRCh38
NC_000004.11:g.159624600G>T , CM000666.1:g.159624600G>T	GRCh37
NC_000004.10:g.159844050G>T	NCBI36
NG_007078.2:g.36107G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681978.1:n.2678G>T
ENST00000682178.1:n.2174G>T
ENST00000682345.1:c.*842G>T	ENSP00000508122.1:n.*842G>T
ENST00000682452.1:n.1473G>T
ENST00000682456.1:c.1001G>T	ENSP00000508240.1:p.Gly334Val
ENST00000682566.1:n.1925G>T
ENST00000682613.1:n.1454G>T
ENST00000682734.1:c.-32G>T	ENSP00000507860.1:n.-32G>T
ENST00000682820.1:n.1179G>T
ENST00000683004.1:c.*835G>T	ENSP00000506936.1:n.*835G>T
ENST00000683079.1:c.*567G>T	ENSP00000507296.1:n.*567G>T
ENST00000683081.1:c.*979G>T	ENSP00000507722.1:n.*979G>T
ENST00000683181.1:n.421G>T
ENST00000683209.1:n.3468G>T
ENST00000683305.1:c.959G>T	ENSP00000508043.1:p.Gly320Val
ENST00000683448.1:c.*62G>T	ENSP00000506931.1:n.*62G>T
ENST00000683478.1:c.*493G>T	ENSP00000507793.1:n.*493G>T
ENST00000683483.1:c.998G>T	ENSP00000507719.1:p.Gly333Val
ENST00000683622.1:n.856G>T
ENST00000683751.1:c.647G>T	ENSP00000506944.1:p.Gly216Val
ENST00000684036.1:c.959G>T	ENSP00000507276.1:p.Gly320Val
ENST00000684129.1:c.-32G>T	ENSP00000507174.1:n.-32G>T
ENST00000684209.1:n.1517G>T
ENST00000684296.1:c.*62G>T	ENSP00000507740.1:n.*62G>T
ENST00000684505.1:c.1091G>T	ENSP00000508237.1:p.Gly364Val
ENST00000684552.1:c.*62G>T	ENSP00000506899.1:n.*62G>T
ENST00000684611.1:n.2870G>T
ENST00000684622.1:c.1142G>T	ENSP00000507546.1:p.Gly381Val
ENST00000684627.1:c.959G>T	ENSP00000507471.1:p.Gly320Val
ENST00000684641.1:c.857G>T	ENSP00000507642.1:p.Gly286Val
ENST00000684675.1:c.1183G>T	ENSP00000506934.1:p.Val395Leu
ENST00000684749.1:n.1211G>T
ENST00000511912.6:c.1142G>T MANE Select	ENSP00000426638.1:p.Gly381Val
ENST00000307738.5:c.1001G>T	ENSP00000303552.5:p.Gly334Val
ENST00000506422.1:n.112G>T
ENST00000511912.5:c.1142G>T	ENSP00000426638.1:p.Gly381Val
NM_001281737.1:c.1001G>T	NP_001268666.1:p.Gly334Val
NM_001281738.1:c.959G>T	NP_001268667.1:p.Gly320Val
NM_004453.3:c.1142G>T	NP_004444.2:p.Gly381Val
XM_024453935.1:c.959G>T	XP_024309703.1:p.Gly320Val
NM_004453.4:c.1142G>T MANE Select	NP_004444.2:p.Gly381Val
NM_001281737.2:c.1001G>T	NP_001268666.1:p.Gly334Val