Canonical Allele Identifier: CA1116218927

Gene: CNGB3

Linked Data

• dbSNP Id: rs199810938
• gnomAD v3: 8-86670589-TA-T
• gnomAD v4: 8-86670589-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670597del , CM000670.2:g.86670597del	GRCh38
NC_000008.10:g.87682825del , CM000670.1:g.87682825del	GRCh37
NC_000008.9:g.87751941del	NCBI36
NG_016980.1:g.78086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+354del MANE Select	ENSP00000316605.5:n.493+354del
ENST00000680314.1:n.254+354del
ENST00000681746.1:c.493+354del	ENSP00000505959.1:n.493+354del
ENST00000320005.5:c.493+354del	ENSP00000316605.5:n.493+354del
NM_019098.4:c.493+354del	NP_061971.3:n.493+354del
XM_011517138.1:c.79+354del	XP_011515440.1:n.79+354del
XM_011517138.2:c.79+354del	XP_011515440.1:n.79+354del
NM_019098.5:c.493+354del MANE Select	NP_061971.3:n.493+354del