Canonical Allele Identifier: CA4799889

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 438042
• ClinVar RCV Id: RCV000504783 ; RCV000988076 ; RCV001222784 ; RCV001834626
• dbSNP Id: rs200805087
• ExAC: 8:87591452 G / A
• gnomAD v2: 8-87591452-G-A
• gnomAD v3: 8-86579224-G-A
• gnomAD v4: 8-86579224-G-A
• COSMIC: COSM5791395
• MyVariant Identifiers: chr8:g.87591452G>A (hg19) ; chr8:g.86579224G>A (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86579224G>A , CM000670.2:g.86579224G>A	GRCh38
NC_000008.10:g.87591452G>A , CM000670.1:g.87591452G>A	GRCh37
NC_000008.9:g.87660568G>A	NCBI36
NG_016980.1:g.169452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1810C>T MANE Select	ENSP00000316605.5:p.Arg604Ter
ENST00000681546.1:n.1630C>T
ENST00000681746.1:c.*221C>T	ENSP00000505959.1:n.*221C>T
ENST00000320005.5:c.1810C>T	ENSP00000316605.5:p.Arg604Ter
NM_019098.4:c.1810C>T	NP_061971.3:p.Arg604Ter
XM_011517138.1:c.1396C>T	XP_011515440.1:p.Arg466Ter
XM_011517138.2:c.1396C>T	XP_011515440.1:p.Arg466Ter
NM_019098.5:c.1810C>T MANE Select	NP_061971.3:p.Arg604Ter