Canonical Allele Identifier: CA180347888

Gene: CNGB3

Linked Data

• dbSNP Id: rs980395192
• MyVariant Identifiers: chr8:g.87655721del (hg19) ; chr8:g.86643493del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643497del , CM000670.2:g.86643497del	GRCh38
NC_000008.10:g.87655725del , CM000670.1:g.87655725del	GRCh37
NC_000008.9:g.87724841del	NCBI36
NG_016980.1:g.105183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+258del MANE Select	ENSP00000316605.5:n.1178+258del
ENST00000681546.1:n.998+258del
ENST00000681746.1:c.1178+258del	ENSP00000505959.1:n.1178+258del
ENST00000320005.5:c.1178+258del	ENSP00000316605.5:n.1178+258del
NM_019098.4:c.1178+258del	NP_061971.3:n.1178+258del
XM_011517138.1:c.764+258del	XP_011515440.1:n.764+258del
XM_011517138.2:c.764+258del	XP_011515440.1:n.764+258del
NM_019098.5:c.1178+258del MANE Select	NP_061971.3:n.1178+258del