Canonical Allele Identifier: CA1116218919

Gene: CNGB3

Linked Data

• dbSNP Id: rs1823836904
• gnomAD v3: 8-86670568-A-ATTATTT
• gnomAD v4: 8-86670568-A-ATTATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670570_86670571insATTTTT , CM000670.2:g.86670570_86670571insATTTTT	GRCh38
NC_000008.10:g.87682798_87682799insATTTTT , CM000670.1:g.87682798_87682799insATTTTT	GRCh37
NC_000008.9:g.87751914_87751915insATTTTT	NCBI36
NG_016980.1:g.78107_78108insAAATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+375_493+376insAAATAA MANE Select	ENSP00000316605.5:n.493+375_493+376insAAATAA
ENST00000680314.1:n.254+375_254+376insAAATAA
ENST00000681746.1:c.493+375_493+376insAAATAA	ENSP00000505959.1:n.493+375_493+376insAAATAA
ENST00000320005.5:c.493+375_493+376insAAATAA	ENSP00000316605.5:n.493+375_493+376insAAATAA
NM_019098.4:c.493+375_493+376insAAATAA	NP_061971.3:n.493+375_493+376insAAATAA
XM_011517138.1:c.79+375_79+376insAAATAA	XP_011515440.1:n.79+375_79+376insAAATAA
XM_011517138.2:c.79+375_79+376insAAATAA	XP_011515440.1:n.79+375_79+376insAAATAA
NM_019098.5:c.493+375_493+376insAAATAA MANE Select	NP_061971.3:n.493+375_493+376insAAATAA