Canonical Allele Identifier: CA789733550

Gene: ETFDH

Linked Data

• dbSNP Id: rs1269882411
• gnomAD v3: 4-158703354-A-AT
• gnomAD v4: 4-158703354-A-AT
• MyVariant Identifiers: chr4:g.159624506_159624507insT (hg19) ; chr4:g.158703354_158703355insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703357dup , CM000666.2:g.158703357dup	GRCh38
NC_000004.11:g.159624509dup , CM000666.1:g.159624509dup	GRCh37
NC_000004.10:g.159843959dup	NCBI36
NG_007078.2:g.36016dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000681978.1:n.2653-66dup
ENST00000682178.1:n.2149-66dup
ENST00000682345.1:c.*817-66dup	ENSP00000508122.1:n.*817-66dup
ENST00000682452.1:n.1448-66dup
ENST00000682456.1:c.976-66dup	ENSP00000508240.1:n.976-66dup
ENST00000682566.1:n.1900-66dup
ENST00000682613.1:n.1429-66dup
ENST00000682734.1:c.-57-66dup	ENSP00000507860.1:n.-57-66dup
ENST00000682820.1:n.1154-66dup
ENST00000683004.1:c.*810-66dup	ENSP00000506936.1:n.*810-66dup
ENST00000683079.1:c.*542-66dup	ENSP00000507296.1:n.*542-66dup
ENST00000683081.1:c.*954-66dup	ENSP00000507722.1:n.*954-66dup
ENST00000683181.1:n.396-66dup
ENST00000683209.1:n.3377dup
ENST00000683305.1:c.934-66dup	ENSP00000508043.1:n.934-66dup
ENST00000683448.1:c.*37-66dup	ENSP00000506931.1:n.*37-66dup
ENST00000683478.1:c.*468-66dup	ENSP00000507793.1:n.*468-66dup
ENST00000683483.1:c.973-66dup	ENSP00000507719.1:n.973-66dup
ENST00000683622.1:n.765dup
ENST00000683751.1:c.622-66dup	ENSP00000506944.1:n.622-66dup
ENST00000684036.1:c.934-66dup	ENSP00000507276.1:n.934-66dup
ENST00000684129.1:c.-57-66dup	ENSP00000507174.1:n.-57-66dup
ENST00000684209.1:n.1492-66dup
ENST00000684296.1:c.*37-66dup	ENSP00000507740.1:n.*37-66dup
ENST00000684505.1:c.1066-66dup	ENSP00000508237.1:n.1066-66dup
ENST00000684552.1:c.*37-66dup	ENSP00000506899.1:n.*37-66dup
ENST00000684611.1:n.2845-66dup
ENST00000684622.1:c.1117-66dup	ENSP00000507546.1:n.1117-66dup
ENST00000684627.1:c.934-66dup	ENSP00000507471.1:n.934-66dup
ENST00000684641.1:c.832-66dup	ENSP00000507642.1:n.832-66dup
ENST00000684675.1:c.1158-66dup	ENSP00000506934.1:n.1158-66dup
ENST00000684749.1:n.1186-66dup
ENST00000511912.6:c.1117-66dup MANE Select	ENSP00000426638.1:n.1117-66dup
ENST00000307738.5:c.976-66dup	ENSP00000303552.5:n.976-66dup
ENST00000506422.1:n.87-66dup
ENST00000511912.5:c.1117-66dup	ENSP00000426638.1:n.1117-66dup
NM_001281737.1:c.976-66dup	NP_001268666.1:n.976-66dup
NM_001281738.1:c.934-66dup	NP_001268667.1:n.934-66dup
NM_004453.3:c.1117-66dup	NP_004444.2:n.1117-66dup
XM_024453935.1:c.934-66dup	XP_024309703.1:n.934-66dup
NM_004453.4:c.1117-66dup MANE Select	NP_004444.2:n.1117-66dup
NM_001281737.2:c.976-66dup	NP_001268666.1:n.976-66dup