Canonical Allele Identifier: CA4800110

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 498448
• ClinVar RCV Id: RCV000594568 ; RCV002532419
• dbSNP Id: rs771941989
• ExAC: 8:87645102 A / G
• gnomAD v2: 8-87645102-A-G
• gnomAD v3: 8-86632874-A-G
• gnomAD v4: 8-86632874-A-G
• MyVariant Identifiers: chr8:g.87645102A>G (hg19) ; chr8:g.86632874A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632874A>G , CM000670.2:g.86632874A>G	GRCh38
NC_000008.10:g.87645102A>G , CM000670.1:g.87645102A>G	GRCh37
NC_000008.9:g.87714218A>G	NCBI36
NG_016980.1:g.115802T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1198T>C MANE Select	ENSP00000316605.5:p.Trp400Arg
ENST00000681546.1:n.1018T>C
ENST00000681746.1:c.1198T>C	ENSP00000505959.1:p.Trp400Arg
ENST00000320005.5:c.1198T>C	ENSP00000316605.5:p.Trp400Arg
NM_019098.4:c.1198T>C	NP_061971.3:p.Trp400Arg
XM_011517138.1:c.784T>C	XP_011515440.1:p.Trp262Arg
XM_011517138.2:c.784T>C	XP_011515440.1:p.Trp262Arg
NM_019098.5:c.1198T>C MANE Select	NP_061971.3:p.Trp400Arg