Canonical Allele Identifier: CA4800270

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 374027
• ClinVar RCV Id: RCV000415035 ; RCV000498183 ; RCV000592388 ; RCV000504685 ; RCV000727187 ; RCV001074298
• dbSNP Id: rs775796581
• ExAC: 8:87679178 TGGAGTCTG / T
• gnomAD v2: 8-87679178-TGGAGTCTG-T
• gnomAD v3: 8-86666950-TGGAGTCTG-T
• gnomAD v4: 8-86666950-TGGAGTCTG-T
• MyVariant Identifiers: chr8:g.87679179_87679186del (hg19) ; chr8:g.86666951_86666958del (hg38)
• PubMed: PMID:10888875 ; PMID:15657609 ; PMID:15712225 ; PMID:17652762 ; PMID:23891399 ; PMID:28041643 ; PMID:28795510

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86666953_86666960del , CM000670.2:g.86666953_86666960del	GRCh38
NC_000008.10:g.87679181_87679188del , CM000670.1:g.87679181_87679188del	GRCh37
NC_000008.9:g.87748297_87748304del	NCBI36
NG_016980.1:g.81718_81725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.819_826del MANE Select	ENSP00000316605.5:p.Arg274ValfsTer13
ENST00000681746.1:c.819_826del	ENSP00000505959.1:p.Arg274ValfsTer13
ENST00000320005.5:c.819_826del	ENSP00000316605.5:p.Arg274ValfsTer13
NM_019098.4:c.819_826del	NP_061971.3:p.Arg274ValfsTer13
XM_011517138.1:c.405_412del	XP_011515440.1:p.Arg136ValfsTer13
XM_011517138.2:c.405_412del	XP_011515440.1:p.Arg136ValfsTer13
NM_019098.5:c.819_826del MANE Select	NP_061971.3:p.Arg274ValfsTer13