Canonical Allele Identifier: CA274001

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 188822
• ClinVar RCV Id: RCV000169161 ; RCV001204119 ; RCV001826865
• dbSNP Id: rs786204492
• gnomAD v2: 8-87683274-G-A
• gnomAD v4: 8-86671046-G-A
• MyVariant Identifiers: chr8:g.87683274G>A (hg19) ; chr8:g.86671046G>A (hg38)
• PubMed: PMID:15459792 ; PMID:15657609 ; PMID:15712225 ; PMID:28795510

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671046G>A , CM000670.2:g.86671046G>A	GRCh38
NC_000008.10:g.87683274G>A , CM000670.1:g.87683274G>A	GRCh37
NC_000008.9:g.87752390G>A	NCBI36
NG_016980.1:g.77630C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.391C>T MANE Select	ENSP00000316605.5:p.Gln131Ter
ENST00000680314.1:n.152C>T
ENST00000681746.1:c.391C>T	ENSP00000505959.1:p.Gln131Ter
ENST00000320005.5:c.391C>T	ENSP00000316605.5:p.Gln131Ter
NM_019098.4:c.391C>T	NP_061971.3:p.Gln131Ter
XM_011517138.1:c.-24C>T	XP_011515440.1:n.-24C>T
XM_011517138.2:c.-24C>T	XP_011515440.1:n.-24C>T
NM_019098.5:c.391C>T MANE Select	NP_061971.3:p.Gln131Ter