Canonical Allele Identifier: CA657298
Gene: RNF186 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.19814732C>T
GRCh37 chr1:g.20141225C>T
Revel Score:
ENST00000375121 (MANE Select) 0.094
gnomAD v2:
1:20141225 C / T
gnomAD v3:
1:19814732 C / T
gnomAD v4:
chr1-19814732-C-T
Joint Max Group AF 0.00010959 (NFE)
Genomes Max Group AF 0.00007907 (NFE)
Exomes Max Group AF 0.0001078 (NFE)
ClinVar RCV:
RCV004129914
ClinVar Variation:
2271750
dbSNP:
142776324
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.19814732C>T , CM000663.2:g.19814732C>T GRCh38
NC_000001.10:g.20141225C>T , CM000663.1:g.20141225C>T GRCh37
NC_000001.9:g.20013812C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375121.4:c.370G>A MANE Select ENSP00000364263.2:p.Val124Met
ENST00000375121.3:c.370G>A ENSP00000364263.2:p.Val124Met
NM_019062.1:c.370G>A NP_061935.1:p.Val124Met
NM_019062.2:c.370G>A MANE Select NP_061935.1:p.Val124Met
Search 100 bp 5'
Search 100 bp 3'