Canonical Allele Identifier: CA371450022
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1508997
ClinVar RCV Id: RCV002016518
dbSNP Id: rs2131618846
MyVariant Identifiers: chr8:g.87683171C>G (hg19) chr8:g.86670943C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670943C>G , CM000670.2:g.86670943C>G GRCh38
NC_000008.10:g.87683171C>G , CM000670.1:g.87683171C>G GRCh37
NC_000008.9:g.87752287C>G NCBI36
NG_016980.1:g.77733G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+1G>C MANE Select ENSP00000316605.5:n.493+1G>C
ENST00000680314.1:n.254+1G>C
ENST00000681746.1:c.493+1G>C ENSP00000505959.1:n.493+1G>C
ENST00000320005.5:c.493+1G>C ENSP00000316605.5:n.493+1G>C
NM_019098.4:c.493+1G>C NP_061971.3:n.493+1G>C
XM_011517138.1:c.79+1G>C XP_011515440.1:n.79+1G>C
XM_011517138.2:c.79+1G>C XP_011515440.1:n.79+1G>C
NM_019098.5:c.493+1G>C MANE Select NP_061971.3:n.493+1G>C
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