Canonical Allele Identifier: CA253441

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 5223
• ClinVar RCV Id: RCV000005533 ; RCV001068378 ; RCV001074242 ; RCV001272489
• dbSNP Id: rs267606739
• ExAC: 8:87680283 G / A
• gnomAD v2: 8-87680283-G-A
• gnomAD v3: 8-86668055-G-A
• gnomAD v4: 8-86668055-G-A
• MyVariant Identifiers: chr8:g.87680283G>A (hg19) ; chr8:g.86668055G>A (hg38)
• PubMed: PMID:10958649 ; PMID:15657609 ; PMID:25205868 ; PMID:28795510

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86668055G>A , CM000670.2:g.86668055G>A	GRCh38
NC_000008.10:g.87680283G>A , CM000670.1:g.87680283G>A	GRCh37
NC_000008.9:g.87749399G>A	NCBI36
NG_016980.1:g.80621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.607C>T MANE Select	ENSP00000316605.5:p.Arg203Ter
ENST00000681746.1:c.607C>T	ENSP00000505959.1:p.Arg203Ter
ENST00000320005.5:c.607C>T	ENSP00000316605.5:p.Arg203Ter
NM_019098.4:c.607C>T	NP_061971.3:p.Arg203Ter
XM_011517138.1:c.193C>T	XP_011515440.1:p.Arg65Ter
XM_011517138.2:c.193C>T	XP_011515440.1:p.Arg65Ter
NM_019098.5:c.607C>T MANE Select	NP_061971.3:p.Arg203Ter