Canonical Allele Identifier: CA609859221
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2629143
ClinVar RCV Id: RCV003420819
dbSNP Id: rs886050266
gnomAD v2: 13-48877896-G-C
gnomAD v3: 13-48303760-G-C
gnomAD v4: 13-48303760-G-C
MyVariant Identifiers: chr13:g.48877896G>C (hg19) chr13:g.48303760G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303760G>C , CM000675.2:g.48303760G>C GRCh38
NC_000013.10:g.48877896G>C , CM000675.1:g.48877896G>C GRCh37
NC_000013.9:g.47775897G>C NCBI36
NG_009009.1:g.5014G>C , LRG_517:g.5014G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-153G>C MANE Select ENSP00000267163.4:n.-153G>C
ENST00000646097.1:c.-153G>C ENSP00000496556.1:n.-153G>C
ENST00000650461.1:c.-153G>C ENSP00000497193.1:n.-153G>C
ENST00000525036.1:n.10G>C
NM_000321.2:c.-153G>C , LRG_517t1:c.-153G>C NP_000312.2:n.-153G>C
NM_000321.3:c.-153G>C MANE Select NP_000312.2:n.-153G>C
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