Canonical Allele Identifier: CA4800107

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 812287
• ClinVar RCV Id: RCV001002977 ; RCV001090382
• dbSNP Id: rs770786127
• ExAC: 8:87645093 G / A
• gnomAD v2: 8-87645093-G-A
• gnomAD v3: 8-86632865-G-A
• gnomAD v4: 8-86632865-G-A
• COSMIC: COSM2789821
• MyVariant Identifiers: chr8:g.87645093G>A (hg19) ; chr8:g.86632865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632865G>A , CM000670.2:g.86632865G>A	GRCh38
NC_000008.10:g.87645093G>A , CM000670.1:g.87645093G>A	GRCh37
NC_000008.9:g.87714209G>A	NCBI36
NG_016980.1:g.115811C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1207C>T MANE Select	ENSP00000316605.5:p.Arg403Ter
ENST00000681546.1:n.1027C>T
ENST00000681746.1:c.1207C>T	ENSP00000505959.1:p.Arg403Ter
ENST00000320005.5:c.1207C>T	ENSP00000316605.5:p.Arg403Ter
NM_019098.4:c.1207C>T	NP_061971.3:p.Arg403Ter
XM_011517138.1:c.793C>T	XP_011515440.1:p.Arg265Ter
XM_011517138.2:c.793C>T	XP_011515440.1:p.Arg265Ter
NM_019098.5:c.1207C>T MANE Select	NP_061971.3:p.Arg403Ter