Canonical Allele Identifier: CA582916704

Gene: CNGB3

Linked Data

• dbSNP Id: rs1411698285
• gnomAD v2: 8-87655929-CAG-C
• gnomAD v4: 8-86643701-CAG-C
• MyVariant Identifiers: chr8:g.87655930_87655931del (hg19) ; chr8:g.86643702_86643703del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643703_86643704del , CM000670.2:g.86643703_86643704del	GRCh38
NC_000008.10:g.87655931_87655932del , CM000670.1:g.87655931_87655932del	GRCh37
NC_000008.9:g.87725047_87725048del	NCBI36
NG_016980.1:g.104973_104974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+48_1178+49del MANE Select	ENSP00000316605.5:n.1178+48_1178+49del
ENST00000681546.1:n.998+48_998+49del
ENST00000681746.1:c.1178+48_1178+49del	ENSP00000505959.1:n.1178+48_1178+49del
ENST00000320005.5:c.1178+48_1178+49del	ENSP00000316605.5:n.1178+48_1178+49del
NM_019098.4:c.1178+48_1178+49del	NP_061971.3:n.1178+48_1178+49del
XM_011517138.1:c.764+48_764+49del	XP_011515440.1:n.764+48_764+49del
XM_011517138.2:c.764+48_764+49del	XP_011515440.1:n.764+48_764+49del
NM_019098.5:c.1178+48_1178+49del MANE Select	NP_061971.3:n.1178+48_1178+49del