Canonical Allele Identifier: CA371447650

Gene: CNGB3

Linked Data

• dbSNP Id: rs1554604789
• gnomAD v3: 8-86578896-ACT-A
• gnomAD v4: 8-86578896-ACT-A
• MyVariant Identifiers: chr8:g.87591125_87591126del (hg19) ; chr8:g.86578898_86578899del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86578899_86578900del , CM000670.2:g.86578899_86578900del	GRCh38
NC_000008.10:g.87591127_87591128del , CM000670.1:g.87591127_87591128del	GRCh37
NC_000008.9:g.87660243_87660244del	NCBI36
NG_016980.1:g.169778_169779del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1929-35_1929-34del MANE Select	ENSP00000316605.5:n.1929-35_1929-34del
ENST00000681546.1:n.1749-35_1749-34del
ENST00000681746.1:c.*340-35_*340-34del	ENSP00000505959.1:n.*340-35_*340-34del
ENST00000320005.5:c.1929-35_1929-34del	ENSP00000316605.5:n.1929-35_1929-34del
ENST00000517327.5:c.102-35_102-34del	ENSP00000428329.1:n.102-35_102-34del
NM_019098.4:c.1929-35_1929-34del	NP_061971.3:n.1929-35_1929-34del
XM_011517138.1:c.1515-35_1515-34del	XP_011515440.1:n.1515-35_1515-34del
XM_011517138.2:c.1515-35_1515-34del	XP_011515440.1:n.1515-35_1515-34del
NM_019098.5:c.1929-35_1929-34del MANE Select	NP_061971.3:n.1929-35_1929-34del