Canonical Allele Identifier: CA4800419

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 261087
• ClinVar RCV Id: RCV000250380 ; RCV000287714 ; RCV000344776 ; RCV000961892
• dbSNP Id: rs200792506
• ExAC: 8:87683335 G / GA
• gnomAD v2: 8-87683335-G-GA
• gnomAD v3: 8-86671107-G-GA
• gnomAD v4: 8-86671107-G-GA
• MyVariant Identifiers: chr8:g.87683336dupA (hg19) ; chr8:g.87683336_87683337insA (hg19) ; chr8:g.87683335_87683336insA (hg19) ; chr8:g.86671108dupA (hg38) ; chr8:g.86671108_86671109insA (hg38) ; chr8:g.86671107_86671108insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86671115dup , CM000670.2:g.86671115dup	GRCh38
NC_000008.10:g.87683343dup , CM000670.1:g.87683343dup	GRCh37
NC_000008.9:g.87752459dup	NCBI36
NG_016980.1:g.77568dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.339-10dup MANE Select	ENSP00000316605.5:n.339-10dup
ENST00000680314.1:n.100-10dup
ENST00000681746.1:c.339-10dup	ENSP00000505959.1:n.339-10dup
ENST00000320005.5:c.339-10dup	ENSP00000316605.5:n.339-10dup
NM_019098.4:c.339-10dup	NP_061971.3:n.339-10dup
XM_011517138.1:c.-76-10dup	XP_011515440.1:n.-76-10dup
XM_011517138.2:c.-76-10dup	XP_011515440.1:n.-76-10dup
NM_019098.5:c.339-10dup MANE Select	NP_061971.3:n.339-10dup