Canonical Allele Identifier: CA918307704

Gene: CNGB3

Linked Data

• dbSNP Id: rs1585988338
• gnomAD v4: 8-86643665-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86643670del , CM000670.2:g.86643670del	GRCh38
NC_000008.10:g.87655898del , CM000670.1:g.87655898del	GRCh37
NC_000008.9:g.87725014del	NCBI36
NG_016980.1:g.105010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1178+85del MANE Select	ENSP00000316605.5:n.1178+85del
ENST00000681546.1:n.998+85del
ENST00000681746.1:c.1178+85del	ENSP00000505959.1:n.1178+85del
ENST00000320005.5:c.1178+85del	ENSP00000316605.5:n.1178+85del
NM_019098.4:c.1178+85del	NP_061971.3:n.1178+85del
XM_011517138.1:c.764+85del	XP_011515440.1:n.764+85del
XM_011517138.2:c.764+85del	XP_011515440.1:n.764+85del
NM_019098.5:c.1178+85del MANE Select	NP_061971.3:n.1178+85del