Canonical Allele Identifier: CA583366253
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2999684
ClinVar RCV Id: RCV003854795
dbSNP Id: rs774662945
gnomAD v2: 8-87679374-C-T
gnomAD v4: 8-86667146-C-T
MyVariant Identifiers: chr8:g.87679374C>T (hg19) chr8:g.86667146C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86667146C>T , CM000670.2:g.86667146C>T GRCh38
NC_000008.10:g.87679374C>T , CM000670.1:g.87679374C>T GRCh37
NC_000008.9:g.87748490C>T NCBI36
NG_016980.1:g.81530G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.644-13G>A MANE Select ENSP00000316605.5:n.644-13G>A
ENST00000681746.1:c.644-13G>A ENSP00000505959.1:n.644-13G>A
ENST00000320005.5:c.644-13G>A ENSP00000316605.5:n.644-13G>A
NM_019098.4:c.644-13G>A NP_061971.3:n.644-13G>A
XM_011517138.1:c.230-13G>A XP_011515440.1:n.230-13G>A
XM_011517138.2:c.230-13G>A XP_011515440.1:n.230-13G>A
NM_019098.5:c.644-13G>A MANE Select NP_061971.3:n.644-13G>A
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