Canonical Allele Identifier: CA273948
Gene: CNGB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 188780
ClinVar RCV Id: RCV000169108
dbSNP Id: rs201794629

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86667134C>G , CM000670.2:g.86667134C>G GRCh38
NC_000008.10:g.87679362C>G , CM000670.1:g.87679362C>G GRCh37
NC_000008.9:g.87748478C>G NCBI36
NG_016980.1:g.81542G>C

Transcript Alleles

HGVS Amino-acid change
NM_019098.4:c.644-1G>C VV NP_061971.3:p.=
XM_011517138.1:c.230-1G>C XP_011515440.1:p.=
XM_011517138.2:c.230-1G>C XP_011515440.1:p.=
ENST00000320005.5:c.644-1G>C ENSP00000316605.5:p.=