Canonical Allele Identifier: CA2717450419

Gene: CNGB3

Linked Data

• dbSNP Id: rs1337743707

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576363del , CM000670.2:g.86576363del	GRCh38
NC_000008.10:g.87588591del , CM000670.1:g.87588591del	GRCh37
NC_000008.9:g.87657707del	NCBI36
NG_016980.1:g.172319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2104-227del MANE Select	ENSP00000316605.5:n.2104-227del
ENST00000681546.1:n.1924-227del
ENST00000681746.1:c.*515-227del	ENSP00000505959.1:n.*515-227del
ENST00000320005.5:c.2104-227del	ENSP00000316605.5:n.2104-227del
ENST00000517327.5:c.276+2332del	ENSP00000428329.1:n.276+2332del
NM_019098.4:c.2104-227del	NP_061971.3:n.2104-227del
XM_011517138.1:c.1690-227del	XP_011515440.1:n.1690-227del
XM_011517138.2:c.1690-227del	XP_011515440.1:n.1690-227del
NM_019098.5:c.2104-227del MANE Select	NP_061971.3:n.2104-227del