Canonical Allele Identifier: CA223548

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 5225
• ClinVar RCV Id: RCV000005535 ; RCV000081978 ; RCV000328174 ; RCV000505026 ; RCV000504902 ; RCV000504797 ; RCV000787822 ; RCV000778111 ; RCV000787571 ; RCV004018566
• dbSNP Id: rs397515360
• ExAC: 8:87656008 AG / A
• gnomAD v2: 8-87656008-AG-A
• gnomAD v3: 8-86643780-AG-A
• gnomAD v4: 8-86643780-AG-A
• MyVariant Identifiers: chr8:g.87656009del (hg19) ; chr8:g.87656009delG (hg19) ; chr8:g.86643781del (hg38)
• PubMed: PMID:1347967 ; PMID:10888875 ; PMID:10958649 ; PMID:12815043 ; PMID:14757870 ; PMID:15657609 ; PMID:15712225 ; PMID:16379026 ; PMID:17265047 ; PMID:20301591 ; PMID:23805033 ; PMID:23891399 ; PMID:25770143 ; PMID:28041643 ; PMID:28795510

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643781del , CM000670.2:g.86643781del	GRCh38
NC_000008.10:g.87656009del , CM000670.1:g.87656009del	GRCh37
NC_000008.9:g.87725125del	NCBI36
NG_016980.1:g.104895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1148del MANE Select	ENSP00000316605.5:p.Thr383IlefsTer13
ENST00000681546.1:n.968del
ENST00000681746.1:c.1148del	ENSP00000505959.1:p.Thr383IlefsTer13
ENST00000320005.5:c.1148del	ENSP00000316605.5:p.Thr383IlefsTer13
NM_019098.4:c.1148del	NP_061971.3:p.Thr383IlefsTer13
XM_011517138.1:c.734del	XP_011515440.1:p.Thr245IlefsTer13
XM_011517138.2:c.734del	XP_011515440.1:p.Thr245IlefsTer13
NM_019098.5:c.1148del MANE Select	NP_061971.3:p.Thr383IlefsTer13