Canonical Allele Identifier: CA274008

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 188827
• ClinVar RCV Id: RCV000169173 ; RCV000678548 ; RCV001074271 ; RCV001036288
• dbSNP Id: rs773372519
• ExAC: 8:87656917 A / C
• gnomAD v2: 8-87656917-A-C
• gnomAD v3: 8-86644689-A-C
• gnomAD v4: 8-86644689-A-C
• MyVariant Identifiers: chr8:g.87656917A>C (hg19) ; chr8:g.86644689A>C (hg38)
• PubMed: PMID:15459792 ; PMID:15657609 ; PMID:19592100 ; PMID:20079539 ; PMID:20574029 ; PMID:28795510

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86644689A>C , CM000670.2:g.86644689A>C	GRCh38
NC_000008.10:g.87656917A>C , CM000670.1:g.87656917A>C	GRCh37
NC_000008.9:g.87726033A>C	NCBI36
NG_016980.1:g.103987T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.991-3T>G MANE Select	ENSP00000316605.5:n.991-3T>G
ENST00000681546.1:n.811-3T>G
ENST00000681746.1:c.991-3T>G	ENSP00000505959.1:n.991-3T>G
ENST00000320005.5:c.991-3T>G	ENSP00000316605.5:n.991-3T>G
NM_019098.4:c.991-3T>G	NP_061971.3:n.991-3T>G
XM_011517138.1:c.577-3T>G	XP_011515440.1:n.577-3T>G
XM_011517138.2:c.577-3T>G	XP_011515440.1:n.577-3T>G
NM_019098.5:c.991-3T>G MANE Select	NP_061971.3:n.991-3T>G