Canonical Allele Identifier: CA126842

Gene: ETFB

Linked Data

• ClinVar Variation Id: 16718
• ClinVar RCV Id: RCV002513095 ; RCV004525856 ; RCV000018202
• dbSNP Id: rs104894678
• ExAC: 19:51853639 C / T
• gnomAD v2: 19-51853639-C-T
• gnomAD v3: 19-51350385-C-T
• gnomAD v4: 19-51350385-C-T
• MyVariant Identifiers: chr19:g.51853639C>T (hg19) ; chr19:g.51350385C>T (hg38)
• PubMed: PMID:9350306 ; PMID:12815589

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51350385C>T , CM000681.2:g.51350385C>T	GRCh38
NC_000019.9:g.51853639C>T , CM000681.1:g.51853639C>T	GRCh37
NC_000019.8:g.56545451C>T	NCBI36
NG_007115.1:g.21034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309244.9:c.382G>A MANE Select	ENSP00000311930.3:p.Asp128Asn
ENST00000309244.8:c.382G>A	ENSP00000311930.3:p.Asp128Asn
ENST00000354232.8:c.655G>A	ENSP00000346173.3:p.Asp219Asn
ENST00000593992.1:n.405G>A
ENST00000596253.1:c.223G>A	ENSP00000469628.1:p.Asp75Asn
ENST00000600067.1:c.*308G>A	ENSP00000469452.1:n.*308G>A
NM_001014763.1:c.655G>A	NP_001014763.1:p.Asp219Asn
NM_001985.2:c.382G>A	NP_001976.1:p.Asp128Asn
XM_024451418.1:c.271G>A	XP_024307186.1:p.Asp91Asn
NM_001985.3:c.382G>A MANE Select	NP_001976.1:p.Asp128Asn