Canonical Allele Identifier: CA4800516

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 1106331
• ClinVar RCV Id: RCV001431070
• dbSNP Id: rs755265699
• ExAC: 8:87751971 G / A
• gnomAD v2: 8-87751971-G-A
• gnomAD v4: 8-86739743-G-A
• MyVariant Identifiers: chr8:g.87751971G>A (hg19) ; chr8:g.87751971_87751972delinsAA (hg19) ; chr8:g.86739743G>A (hg38) ; chr8:g.86739743_86739744delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739743G>A , CM000670.2:g.86739743G>A	GRCh38
NC_000008.10:g.87751971G>A , CM000670.1:g.87751971G>A	GRCh37
NC_000008.9:g.87821087G>A	NCBI36
NG_016980.1:g.8933C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.130-7C>T MANE Select	ENSP00000316605.5:n.130-7C>T
ENST00000681746.1:c.130-7C>T	ENSP00000505959.1:n.130-7C>T
ENST00000320005.5:c.130-7C>T	ENSP00000316605.5:n.130-7C>T
ENST00000519777.1:n.112-7C>T
NM_019098.4:c.130-7C>T	NP_061971.3:n.130-7C>T
NM_019098.5:c.130-7C>T MANE Select	NP_061971.3:n.130-7C>T