Canonical Allele Identifier: CA4800480

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 1265940
• ClinVar RCV Id: RCV001675236
• dbSNP Id: rs78198409
• ExAC: 8:87751848 GTTT / G
• gnomAD v2: 8-87751848-GTTT-G
• gnomAD v3: 8-86739620-GTTT-G
• gnomAD v4: 8-86739620-GTTT-G
• MyVariant Identifiers: chr8:g.87751849_87751851del (hg19) ; chr8:g.86739621_86739623del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739636_86739638del , CM000670.2:g.86739636_86739638del	GRCh38
NC_000008.10:g.87751864_87751866del , CM000670.1:g.87751864_87751866del	GRCh37
NC_000008.9:g.87820980_87820982del	NCBI36
NG_016980.1:g.9053_9055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.211+32_211+34del MANE Select	ENSP00000316605.5:n.211+32_211+34del
ENST00000681746.1:c.211+32_211+34del	ENSP00000505959.1:n.211+32_211+34del
ENST00000320005.5:c.211+32_211+34del	ENSP00000316605.5:n.211+32_211+34del
ENST00000519777.1:n.193+32_193+34del
NM_019098.4:c.211+32_211+34del	NP_061971.3:n.211+32_211+34del
NM_019098.5:c.211+32_211+34del MANE Select	NP_061971.3:n.211+32_211+34del