Canonical Allele Identifier: CA180363890

Gene: CNGB3

Linked Data

• dbSNP Id: rs751789037
• MyVariant Identifiers: chr8:g.87680158_87680176del (hg19) ; chr8:g.86667930_86667948del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86667932_86667950del , CM000670.2:g.86667932_86667950del	GRCh38
NC_000008.10:g.87680160_87680178del , CM000670.1:g.87680160_87680178del	GRCh37
NC_000008.9:g.87749276_87749294del	NCBI36
NG_016980.1:g.80728_80746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.643+71_643+89del MANE Select	ENSP00000316605.5:n.643+71_643+89del
ENST00000681746.1:c.643+71_643+89del	ENSP00000505959.1:n.643+71_643+89del
ENST00000320005.5:c.643+71_643+89del	ENSP00000316605.5:n.643+71_643+89del
NM_019098.4:c.643+71_643+89del	NP_061971.3:n.643+71_643+89del
XM_011517138.1:c.229+71_229+89del	XP_011515440.1:n.229+71_229+89del
XM_011517138.2:c.229+71_229+89del	XP_011515440.1:n.229+71_229+89del
NM_019098.5:c.643+71_643+89del MANE Select	NP_061971.3:n.643+71_643+89del