Canonical Allele Identifier: CA273948
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 188780
ClinVar RCV Id: RCV000169108 RCV000814009 RCV001002980 RCV001535671
dbSNP Id: rs201794629
ExAC: 8:87679362 C / G
gnomAD v2: 8-87679362-C-G
gnomAD v3: 8-86667134-C-G
gnomAD v4: 8-86667134-C-G
MyVariant Identifiers: chr8:g.87679362C>G (hg19) chr8:g.86667134C>G (hg38)
PubMed: PMID:15657609 PMID:28795510
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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
ENST00000320005.6:c.644-1G>C MANE Select ENSP00000316605.5:n.644-1G>C
ENST00000681746.1:c.644-1G>C ENSP00000505959.1:n.644-1G>C
ENST00000320005.5:c.644-1G>C ENSP00000316605.5:n.644-1G>C
NM_019098.4:c.644-1G>C NP_061971.3:n.644-1G>C
XM_011517138.1:c.230-1G>C XP_011515440.1:n.230-1G>C
XM_011517138.2:c.230-1G>C XP_011515440.1:n.230-1G>C
NM_019098.5:c.644-1G>C MANE Select NP_061971.3:n.644-1G>C
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