Canonical Allele Identifier: CA1116229969

Gene: CNGB3

Linked Data

• dbSNP Id: rs1823231251
• gnomAD v3: 8-86643463-T-TTTC
• gnomAD v4: 8-86643463-T-TTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643464_86643466dup , CM000670.2:g.86643464_86643466dup	GRCh38
NC_000008.10:g.87655692_87655694dup , CM000670.1:g.87655692_87655694dup	GRCh37
NC_000008.9:g.87724808_87724810dup	NCBI36
NG_016980.1:g.105210_105212dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+285_1178+287dup MANE Select	ENSP00000316605.5:n.1178+285_1178+287dup
ENST00000681546.1:n.998+285_998+287dup
ENST00000681746.1:c.1178+285_1178+287dup	ENSP00000505959.1:n.1178+285_1178+287dup
ENST00000320005.5:c.1178+285_1178+287dup	ENSP00000316605.5:n.1178+285_1178+287dup
NM_019098.4:c.1178+285_1178+287dup	NP_061971.3:n.1178+285_1178+287dup
XM_011517138.1:c.764+285_764+287dup	XP_011515440.1:n.764+285_764+287dup
XM_011517138.2:c.764+285_764+287dup	XP_011515440.1:n.764+285_764+287dup
NM_019098.5:c.1178+285_1178+287dup MANE Select	NP_061971.3:n.1178+285_1178+287dup