Canonical Allele Identifier: CA312506
Gene: ETFB HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.51353275C>T
GRCh37 chr19:g.51856529C>T
Revel Score:
ENST00000309244 (MANE Select) 0.789
ENST00000354232 0.789
gnomAD v2:
19:51856529 C / T
gnomAD v3:
19:51353275 C / T
gnomAD v4:
chr19-51353275-C-T
Joint Max Group AF 0.00001744 (AFR)
Genomes Max Group AF 0.00001915 (AFR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar Allele:
200353
ClinVar RCV:
RCV000185880
RCV002222436
RCV002513954
ClinVar Variation:
203703
dbSNP:
548046212
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51353275C>T , CM000681.2:g.51353275C>T GRCh38
NC_000019.9:g.51856529C>T , CM000681.1:g.51856529C>T GRCh37
NC_000019.8:g.56548341C>T NCBI36
NG_007115.1:g.18144G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309244.9:c.232G>A MANE Select ENSP00000311930.3:p.Ala78Thr
ENST00000309244.8:c.232G>A ENSP00000311930.3:p.Ala78Thr
ENST00000354232.8:c.505G>A ENSP00000346173.3:p.Ala169Thr
ENST00000593992.1:n.255G>A
ENST00000596253.1:c.216+875G>A ENSP00000469628.1:n.216+875G>A
ENST00000600067.1:c.*158G>A ENSP00000469452.1:n.*158G>A
NM_001014763.1:c.505G>A NP_001014763.1:p.Ala169Thr
NM_001985.2:c.232G>A NP_001976.1:p.Ala78Thr
XM_024451418.1:c.121G>A XP_024307186.1:p.Ala41Thr
NM_001985.3:c.232G>A MANE Select NP_001976.1:p.Ala78Thr
Search 100 bp 5'
Search 100 bp 3'