Canonical Allele Identifier: CA4800391

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 965279
• ClinVar RCV Id: RCV001239685 ; RCV001834100
• dbSNP Id: rs777404947
• ExAC: 8:87683190 C / T
• gnomAD v2: 8-87683190-C-T
• gnomAD v3: 8-86670962-C-T
• gnomAD v4: 8-86670962-C-T
• COSMIC: COSM1458496
• MyVariant Identifiers: chr8:g.87683190C>T (hg19) ; chr8:g.86670962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670962C>T , CM000670.2:g.86670962C>T	GRCh38
NC_000008.10:g.87683190C>T , CM000670.1:g.87683190C>T	GRCh37
NC_000008.9:g.87752306C>T	NCBI36
NG_016980.1:g.77714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.475G>A MANE Select	ENSP00000316605.5:p.Glu159Lys
ENST00000680314.1:n.236G>A
ENST00000681746.1:c.475G>A	ENSP00000505959.1:p.Glu159Lys
ENST00000320005.5:c.475G>A	ENSP00000316605.5:p.Glu159Lys
NM_019098.4:c.475G>A	NP_061971.3:p.Glu159Lys
XM_011517138.1:c.61G>A	XP_011515440.1:p.Glu21Lys
XM_011517138.2:c.61G>A	XP_011515440.1:p.Glu21Lys
NM_019098.5:c.475G>A MANE Select	NP_061971.3:p.Glu159Lys