Canonical Allele Identifier: CA312537

Gene: ETFDH

Linked Data

• ClinVar Variation Id: 2511021
• ClinVar RCV Id: RCV003244087
• dbSNP Id: rs549454407
• gnomAD v2: 4-159620139-G-T
• gnomAD v3: 4-158698987-G-T
• gnomAD v4: 4-158698987-G-T
• MyVariant Identifiers: chr4:g.159620139G>T (hg19) ; chr4:g.158698987G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158698987G>T , CM000666.2:g.158698987G>T	GRCh38
NC_000004.11:g.159620139G>T , CM000666.1:g.159620139G>T	GRCh37
NC_000004.10:g.159839589G>T	NCBI36
NG_007078.2:g.31646G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681978.1:n.2509G>T
ENST00000682178.1:n.2005G>T
ENST00000682345.1:c.*673G>T	ENSP00000508122.1:n.*673G>T
ENST00000682452.1:n.1304G>T
ENST00000682456.1:c.832G>T	ENSP00000508240.1:p.Val278Phe
ENST00000682566.1:n.1756G>T
ENST00000682613.1:n.1285G>T
ENST00000682734.1:c.-201G>T	ENSP00000507860.1:n.-201G>T
ENST00000682820.1:n.1010G>T
ENST00000683004.1:c.*809+1288G>T	ENSP00000506936.1:n.*809+1288G>T
ENST00000683079.1:c.*353G>T	ENSP00000507296.1:n.*353G>T
ENST00000683081.1:c.*810G>T	ENSP00000507722.1:n.*810G>T
ENST00000683181.1:n.207G>T
ENST00000683305.1:c.790G>T	ENSP00000508043.1:p.Val264Phe
ENST00000683448.1:c.478G>T	ENSP00000506931.1:p.Val160Phe
ENST00000683478.1:c.*324G>T	ENSP00000507793.1:n.*324G>T
ENST00000683483.1:c.972+1288G>T	ENSP00000507719.1:n.972+1288G>T
ENST00000683751.1:c.478G>T	ENSP00000506944.1:p.Val160Phe
ENST00000684036.1:c.790G>T	ENSP00000507276.1:p.Val264Phe
ENST00000684129.1:c.-246G>T	ENSP00000507174.1:n.-246G>T
ENST00000684209.1:n.1348G>T
ENST00000684296.1:c.973G>T	ENSP00000507740.1:p.Val325Phe
ENST00000684505.1:c.922G>T	ENSP00000508237.1:p.Val308Phe
ENST00000684552.1:c.973G>T	ENSP00000506899.1:p.Val325Phe
ENST00000684611.1:n.2701G>T
ENST00000684622.1:c.973G>T	ENSP00000507546.1:p.Val325Phe
ENST00000684627.1:c.790G>T	ENSP00000507471.1:p.Val264Phe
ENST00000684641.1:c.831+3344G>T	ENSP00000507642.1:n.831+3344G>T
ENST00000684675.1:c.973G>T	ENSP00000506934.1:p.Val325Phe
ENST00000684749.1:n.1042G>T
ENST00000511912.6:c.973G>T MANE Select	ENSP00000426638.1:p.Val325Phe
ENST00000307738.5:c.832G>T	ENSP00000303552.5:p.Val278Phe
ENST00000506422.1:n.87-4436G>T
ENST00000507475.5:c.478G>T	ENSP00000422735.1:p.Val160Phe
ENST00000511912.5:c.973G>T	ENSP00000426638.1:p.Val325Phe
NM_001281737.1:c.832G>T	NP_001268666.1:p.Val278Phe
NM_001281738.1:c.790G>T	NP_001268667.1:p.Val264Phe
NM_004453.3:c.973G>T	NP_004444.2:p.Val325Phe
XM_024453935.1:c.790G>T	XP_024309703.1:p.Val264Phe
NM_004453.4:c.973G>T MANE Select	NP_004444.2:p.Val325Phe
NM_001281737.2:c.832G>T	NP_001268666.1:p.Val278Phe