Canonical Allele Identifier: CA856344695

Gene: CNGB3

Linked Data

• dbSNP Id: rs1232367281
• MyVariant Identifiers: chr8:g.87655693_87655695del (hg19) ; chr8:g.86643465_86643467del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643465_86643467del , CM000670.2:g.86643465_86643467del	GRCh38
NC_000008.10:g.87655693_87655695del , CM000670.1:g.87655693_87655695del	GRCh37
NC_000008.9:g.87724809_87724811del	NCBI36
NG_016980.1:g.105209_105211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+284_1178+286del MANE Select	ENSP00000316605.5:n.1178+284_1178+286del
ENST00000681546.1:n.998+284_998+286del
ENST00000681746.1:c.1178+284_1178+286del	ENSP00000505959.1:n.1178+284_1178+286del
ENST00000320005.5:c.1178+284_1178+286del	ENSP00000316605.5:n.1178+284_1178+286del
NM_019098.4:c.1178+284_1178+286del	NP_061971.3:n.1178+284_1178+286del
XM_011517138.1:c.764+284_764+286del	XP_011515440.1:n.764+284_764+286del
XM_011517138.2:c.764+284_764+286del	XP_011515440.1:n.764+284_764+286del
NM_019098.5:c.1178+284_1178+286del MANE Select	NP_061971.3:n.1178+284_1178+286del