Canonical Allele Identifier: CA583366254

Gene: CNGB3

Linked Data

• dbSNP Id: rs1166870923
• gnomAD v2: 8-87679385-A-C
• gnomAD v4: 8-86667157-A-C
• MyVariant Identifiers: chr8:g.87679385A>C (hg19) ; chr8:g.86667157A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86667157A>C , CM000670.2:g.86667157A>C	GRCh38
NC_000008.10:g.87679385A>C , CM000670.1:g.87679385A>C	GRCh37
NC_000008.9:g.87748501A>C	NCBI36
NG_016980.1:g.81519T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.644-24T>G MANE Select	ENSP00000316605.5:n.644-24T>G
ENST00000681746.1:c.644-24T>G	ENSP00000505959.1:n.644-24T>G
ENST00000320005.5:c.644-24T>G	ENSP00000316605.5:n.644-24T>G
NM_019098.4:c.644-24T>G	NP_061971.3:n.644-24T>G
XM_011517138.1:c.230-24T>G	XP_011515440.1:n.230-24T>G
XM_011517138.2:c.230-24T>G	XP_011515440.1:n.230-24T>G
NM_019098.5:c.644-24T>G MANE Select	NP_061971.3:n.644-24T>G