Canonical Allele Identifier: CA2687825203

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86643749-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643750del , CM000670.2:g.86643750del	GRCh38
NC_000008.10:g.87655978del , CM000670.1:g.87655978del	GRCh37
NC_000008.9:g.87725094del	NCBI36
NG_016980.1:g.104926del

Transcript Alleles

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