Canonical Allele Identifier: CA918307647

Gene: CNGB3

Linked Data

• dbSNP Id: rs1586004004

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86667169_86667170insCATATGTGATATCATCTACCTTTATG , CM000670.2:g.86667169_86667170insCATATGTGATATCATCTACCTTTATG	GRCh38
NC_000008.10:g.87679397_87679398insCATATGTGATATCATCTACCTTTATG , CM000670.1:g.87679397_87679398insCATATGTGATATCATCTACCTTTATG	GRCh37
NC_000008.9:g.87748513_87748514insCATATGTGATATCATCTACCTTTATG	NCBI36
NG_016980.1:g.81506_81507insCATAAAGGTAGATGATATCACATATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.644-37_644-36insCATAAAGGTAGATGATATCACATATG MANE Select	ENSP00000316605.5:n.644-37_644-36insCATAAAGGTAGATGATATCACATAT...
ENST00000681746.1:c.644-37_644-36insCATAAAGGTAGATGATATCACATATG	ENSP00000505959.1:n.644-37_644-36insCATAAAGGTAGATGATATCACATAT...
ENST00000320005.5:c.644-37_644-36insCATAAAGGTAGATGATATCACATATG	ENSP00000316605.5:n.644-37_644-36insCATAAAGGTAGATGATATCACATAT...
NM_019098.4:c.644-37_644-36insCATAAAGGTAGATGATATCACATATG	NP_061971.3:n.644-37_644-36insCATAAAGGTAGATGATATCACATATG
XM_011517138.1:c.230-37_230-36insCATAAAGGTAGATGATATCACATATG	XP_011515440.1:n.230-37_230-36insCATAAAGGTAGATGATATCACATATG
XM_011517138.2:c.230-37_230-36insCATAAAGGTAGATGATATCACATATG	XP_011515440.1:n.230-37_230-36insCATAAAGGTAGATGATATCACATATG
NM_019098.5:c.644-37_644-36insCATAAAGGTAGATGATATCACATATG MANE Select	NP_061971.3:n.644-37_644-36insCATAAAGGTAGATGATATCACATATG