Canonical Allele Identifier: CA17171376
Community Standard Title: NM_207396.3(RNF207):c.1109+1G>A
Gene: RNF207 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6211119G>A , CM000663.2:g.6211119G>A GRCh38
NC_000001.10:g.6271179G>A , CM000663.1:g.6271179G>A GRCh37
NC_000001.9:g.6193766G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_207396.3:c.1109+1G>A MANE Select NP_997279.2:n.1109+1G>A
ENST00000377939.5:c.1109+1G>A MANE Select ENSP00000367173.4:n.1109+1G>A
NM_207396.2:c.1109+1G>A NP_997279.2:n.1109+1G>A
ENST00000377939.4:c.1109+1G>A ENSP00000367173.4:n.1109+1G>A
ENST00000463453.1:n.135+1G>A
ENST00000492476.1:n.84+1G>A
ENST00000496329.1:n.181+1G>A
ENST00000496676.5:n.481+681G>A
XM_011541438.1:c.1109+1G>A XP_011539740.1:n.1109+1G>A
XM_011541439.1:c.1253+1G>A XP_011539741.1:n.1253+1G>A
XM_011541439.3:c.1253+1G>A XP_011539741.1:n.1253+1G>A
XM_011541440.1:c.1253+1G>A XP_011539742.1:n.1253+1G>A
XM_017001259.2:c.1109+1G>A XP_016856748.1:n.1109+1G>A
XR_001737158.2:n.1275+1G>A
XR_001737159.2:n.1275+1G>A
XR_001737161.2:n.1275+1G>A
XR_001737162.2:n.1275+1G>A
XR_001737164.2:n.1692+1G>A
XR_002956484.1:n.1275+1G>A
XR_002956486.1:n.1275+1G>A
XR_946651.1:n.1418+1G>A
XR_946651.3:n.1275+1G>A
XR_946652.1:n.1418+1G>A
XR_946652.3:n.1275+1G>A