Canonical Allele Identifier: CA4800395

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 763921
• ClinVar RCV Id: RCV000942214 ; RCV001832164
• dbSNP Id: rs149945278
• ExAC: 8:87683206 T / G
• gnomAD v2: 8-87683206-T-G
• gnomAD v3: 8-86670978-T-G
• gnomAD v4: 8-86670978-T-G
• MyVariant Identifiers: chr8:g.87683206T>G (hg19) ; chr8:g.86670978T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670978T>G , CM000670.2:g.86670978T>G	GRCh38
NC_000008.10:g.87683206T>G , CM000670.1:g.87683206T>G	GRCh37
NC_000008.9:g.87752322T>G	NCBI36
NG_016980.1:g.77698A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.459A>C MANE Select	ENSP00000316605.5:p.Gly153=
ENST00000680314.1:n.220A>C
ENST00000681746.1:c.459A>C	ENSP00000505959.1:p.Gly153=
ENST00000320005.5:c.459A>C	ENSP00000316605.5:p.Gly153=
NM_019098.4:c.459A>C	NP_061971.3:p.Gly153=
XM_011517138.1:c.45A>C	XP_011515440.1:p.Gly15=
XM_011517138.2:c.45A>C	XP_011515440.1:p.Gly15=
NM_019098.5:c.459A>C MANE Select	NP_061971.3:p.Gly153=