Canonical Allele Identifier: CA10618183

Gene: ETFDH C4orf46

Linked Data

• ClinVar Variation Id: 347951
• ClinVar RCV Id: RCV000382620
• dbSNP Id: rs886059192
• gnomAD v3: 4-158672142-G-A
• gnomAD v4: 4-158672142-G-A
• MyVariant Identifiers: chr4:g.159593294G>A (hg19) ; chr4:g.158672142G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158672142G>A , CM000666.2:g.158672142G>A	GRCh38
NC_000004.11:g.159593294G>A , CM000666.1:g.159593294G>A	GRCh37
NC_000004.10:g.159812744G>A	NCBI36
NG_007078.2:g.4801G>A
NG_033150.1:g.5114C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512251.6:n.175G>A (ETFDH)
ENST00000682345.1:c.-315G>A (ETFDH)	ENSP00000508122.1:n.-315G>A
ENST00000508836.1:n.114C>T (C4orf46)
ENST00000511912.5:c.-315G>A (ETFDH)	ENSP00000426638.1:n.-315G>A
ENST00000512251.5:c.-315G>A (ETFDH)	ENSP00000425661.1:n.-315G>A
NM_001281737.1:c.-315G>A (ETFDH)	NP_001268666.1:n.-315G>A
NM_004453.3:c.-315G>A (ETFDH)	NP_004444.2:n.-315G>A
NR_077234.1:n.114C>T (C4orf46)
NR_077235.1:n.114C>T (C4orf46)