Canonical Allele Identifier: CA918307996

Gene: CNGB3

Linked Data

• dbSNP Id: rs1563711196
• gnomAD v4: 8-86575893-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575894del , CM000670.2:g.86575894del	GRCh38
NC_000008.10:g.87588122del , CM000670.1:g.87588122del	GRCh37
NC_000008.9:g.87657238del	NCBI36
NG_016980.1:g.172782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2340del MANE Select	ENSP00000316605.5:p.Arg781ValfsTer?
ENST00000681546.1:n.2160del
ENST00000681746.1:c.*751del	ENSP00000505959.1:n.*751del
ENST00000320005.5:c.2340del	ENSP00000316605.5:p.Arg781ValfsTer?
ENST00000517327.5:c.276+2795del	ENSP00000428329.1:n.276+2795del
NM_019098.4:c.2340del	NP_061971.3:p.Arg781ValfsTer?
XM_011517138.1:c.1926del	XP_011515440.1:p.Arg643ValfsTer?
XM_011517138.2:c.1926del	XP_011515440.1:p.Arg643ValfsTer?
NM_019098.5:c.2340del MANE Select	NP_061971.3:p.Arg781ValfsTer?