Canonical Allele Identifier: CA273948

Gene: CNGB3

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

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