Canonical Allele Identifier: CA645372854

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 427667
• ClinVar RCV Id: RCV000497669 ; RCV002526058
• dbSNP Id: rs1554604552
• MyVariant Identifiers: chr8:g.87588241del (hg19) ; chr8:g.86576013del (hg38)
• PubMed: PMID:28795510

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576013del , CM000670.2:g.86576013del	GRCh38
NC_000008.10:g.87588241del , CM000670.1:g.87588241del	GRCh37
NC_000008.9:g.87657357del	NCBI36
NG_016980.1:g.172663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2221del MANE Select	ENSP00000316605.5:p.Asp741IlefsTer?
ENST00000681546.1:n.2041del
ENST00000681746.1:c.*632del	ENSP00000505959.1:n.*632del
ENST00000320005.5:c.2221del	ENSP00000316605.5:p.Asp741IlefsTer?
ENST00000517327.5:c.276+2676del	ENSP00000428329.1:n.276+2676del
NM_019098.4:c.2221del	NP_061971.3:p.Asp741IlefsTer?
XM_011517138.1:c.1807del	XP_011515440.1:p.Asp603IlefsTer?
XM_011517138.2:c.1807del	XP_011515440.1:p.Asp603IlefsTer?
NM_019098.5:c.2221del MANE Select	NP_061971.3:p.Asp741IlefsTer?