Canonical Allele Identifier: CA180366414
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2739657
ClinVar RCV Id: RCV003555563
dbSNP Id: rs999570677
gnomAD v3: 8-86670931-G-C
gnomAD v4: 8-86670931-G-C
MyVariant Identifiers: chr8:g.87683159G>C (hg19) chr8:g.86670931G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670931G>C , CM000670.2:g.86670931G>C GRCh38
NC_000008.10:g.87683159G>C , CM000670.1:g.87683159G>C GRCh37
NC_000008.9:g.87752275G>C NCBI36
NG_016980.1:g.77745C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+13C>G MANE Select ENSP00000316605.5:n.493+13C>G
ENST00000680314.1:n.254+13C>G
ENST00000681746.1:c.493+13C>G ENSP00000505959.1:n.493+13C>G
ENST00000320005.5:c.493+13C>G ENSP00000316605.5:n.493+13C>G
NM_019098.4:c.493+13C>G NP_061971.3:n.493+13C>G
XM_011517138.1:c.79+13C>G XP_011515440.1:n.79+13C>G
XM_011517138.2:c.79+13C>G XP_011515440.1:n.79+13C>G
NM_019098.5:c.493+13C>G MANE Select NP_061971.3:n.493+13C>G
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