Canonical Allele Identifier: CA312494
Gene: ETFB HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.51353215G>A
GRCh37 chr19:g.51856469G>A
Revel Score:
ENST00000309244 (MANE Select) 0.258
ENST00000354232 0.258
gnomAD v2:
19:51856469 G / A
gnomAD v3:
19:51353215 G / A
gnomAD v4:
chr19-51353215-G-A
Joint Max Group AF 0.00207611 (NFE)
Genomes Max Group AF 0.00193058 (NFE)
Exomes Max Group AF 0.00207011 (NFE)
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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
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