Canonical Allele Identifier: CA312494

Gene: ETFB

Linked Data

• ClinVar Variation Id: 203697
• ClinVar RCV Id: RCV000185874 ; RCV000658852 ; RCV001086047 ; RCV001171332 ; RCV003907648
• dbSNP Id: rs147353781
• ExAC: 19:51856469 G / A
• gnomAD v2: 19-51856469-G-A
• gnomAD v3: 19-51353215-G-A
• gnomAD v4: 19-51353215-G-A
• COSMIC: COSM1612658 ; COSM1612659
• MyVariant Identifiers: chr19:g.51856469G>A (hg19) ; chr19:g.51353215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.51353215G>A , CM000681.2:g.51353215G>A	GRCh38
NC_000019.9:g.51856469G>A , CM000681.1:g.51856469G>A	GRCh37
NC_000019.8:g.56548281G>A	NCBI36
NG_007115.1:g.18204C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309244.9:c.292C>T MANE Select	ENSP00000311930.3:p.Arg98Cys
ENST00000309244.8:c.292C>T	ENSP00000311930.3:p.Arg98Cys
ENST00000354232.8:c.565C>T	ENSP00000346173.3:p.Arg189Cys
ENST00000593992.1:n.315C>T
ENST00000596253.1:c.216+935C>T	ENSP00000469628.1:n.216+935C>T
ENST00000600067.1:c.*218C>T	ENSP00000469452.1:n.*218C>T
NM_001014763.1:c.565C>T	NP_001014763.1:p.Arg189Cys
NM_001985.2:c.292C>T	NP_001976.1:p.Arg98Cys
XM_024451418.1:c.181C>T	XP_024307186.1:p.Arg61Cys
NM_001985.3:c.292C>T MANE Select	NP_001976.1:p.Arg98Cys