Canonical Allele Identifier: CA4800504

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 1091136
• ClinVar RCV Id: RCV001410558 ; RCV001831451
• dbSNP Id: rs767130603
• ExAC: 8:87751911 C / T
• gnomAD v2: 8-87751911-C-T
• gnomAD v3: 8-86739683-C-T
• gnomAD v4: 8-86739683-C-T
• MyVariant Identifiers: chr8:g.87751911C>T (hg19) ; chr8:g.86739683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739683C>T , CM000670.2:g.86739683C>T	GRCh38
NC_000008.10:g.87751911C>T , CM000670.1:g.87751911C>T	GRCh37
NC_000008.9:g.87821027C>T	NCBI36
NG_016980.1:g.8993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.183G>A MANE Select	ENSP00000316605.5:p.Thr61=
ENST00000681746.1:c.183G>A	ENSP00000505959.1:p.Thr61=
ENST00000320005.5:c.183G>A	ENSP00000316605.5:p.Thr61=
ENST00000519777.1:n.165G>A
NM_019098.4:c.183G>A	NP_061971.3:p.Thr61=
NM_019098.5:c.183G>A MANE Select	NP_061971.3:p.Thr61=