Canonical Allele Identifier: CA558348
Gene: RNF207 HGNC NCBI
COSMIC:
COSM1162166 (not active)
MyVariant.info:
GRCh38 chr1:g.6219310G>C
GRCh37 chr1:g.6279370G>C
Revel Score:
ENST00000377939 (MANE Select) 0.035
gnomAD v2:
1:6279370 G / C
gnomAD v3:
1:6219310 G / C
gnomAD v4:
chr1-6219310-G-C
Joint Max Group AF 0.28994407 (SAS)
Genomes Max Group AF 0.27471064 (SAS)
Exomes Max Group AF 0.290172 (SAS)
dbSNP:
846111
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6219310G>C , CM000663.2:g.6219310G>C GRCh38
NC_000001.10:g.6279370G>C , CM000663.1:g.6279370G>C GRCh37
NC_000001.9:g.6201957G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377939.5:c.1808G>C MANE Select ENSP00000367173.4:p.Gly603Ala
ENST00000377939.4:c.1808G>C ENSP00000367173.4:p.Gly603Ala
ENST00000483336.1:n.440G>C
ENST00000496676.5:n.1525G>C
NM_207396.2:c.1808G>C NP_997279.2:p.Gly603Ala
XM_011541439.1:c.1952G>C XP_011539741.1:p.Gly651Ala
XR_946651.1:n.2301G>C
XR_946652.1:n.2287G>C
XM_011541439.3:c.1952G>C XP_011539741.1:p.Gly651Ala
XM_017001259.2:c.1874G>C XP_016856748.1:p.Gly625Ala
XR_001737158.2:n.2386G>C
XR_001737159.2:n.2224G>C
XR_001737162.2:n.2320G>C
XR_001737164.2:n.2862G>C
XR_946651.3:n.2158G>C
XR_946652.3:n.2144G>C
NM_207396.3:c.1808G>C MANE Select NP_997279.2:p.Gly603Ala
Search 100 bp 5'
Search 100 bp 3'