Canonical Allele Identifier: CA4800388
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1595142
ClinVar RCV Id: RCV002109405
dbSNP Id: rs767429913
ExAC: 8:87683161 G / A
gnomAD v2: 8-87683161-G-A
gnomAD v3: 8-86670933-G-A
gnomAD v4: 8-86670933-G-A
MyVariant Identifiers: chr8:g.87683161G>A (hg19) chr8:g.86670933G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670933G>A , CM000670.2:g.86670933G>A GRCh38
NC_000008.10:g.87683161G>A , CM000670.1:g.87683161G>A GRCh37
NC_000008.9:g.87752277G>A NCBI36
NG_016980.1:g.77743C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+11C>T MANE Select ENSP00000316605.5:n.493+11C>T
ENST00000680314.1:n.254+11C>T
ENST00000681746.1:c.493+11C>T ENSP00000505959.1:n.493+11C>T
ENST00000320005.5:c.493+11C>T ENSP00000316605.5:n.493+11C>T
NM_019098.4:c.493+11C>T NP_061971.3:n.493+11C>T
XM_011517138.1:c.79+11C>T XP_011515440.1:n.79+11C>T
XM_011517138.2:c.79+11C>T XP_011515440.1:n.79+11C>T
NM_019098.5:c.493+11C>T MANE Select NP_061971.3:n.493+11C>T
Search 100 bp 5'
Search 100 bp 3'