Canonical Allele Identifier: CA180328066
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 909362
ClinVar RCV Id: RCV001160380 RCV001160381
dbSNP Id: rs970889903
MyVariant Identifiers: chr8:g.87586299A>G (hg19) chr8:g.86574071A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574071A>G , CM000670.2:g.86574071A>G GRCh38
NC_000008.10:g.87586299A>G , CM000670.1:g.87586299A>G GRCh37
NC_000008.9:g.87655415A>G NCBI36
NG_016980.1:g.174605T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000681746.1:c.*2574T>C ENSP00000505959.1:n.*2574T>C
ENST00000320005.5:c.*1733T>C ENSP00000316605.5:n.*1733T>C
ENST00000517327.5:c.276+4618T>C ENSP00000428329.1:n.276+4618T>C
NM_019098.4:c.*1733T>C NP_061971.3:n.*1733T>C
XM_011517138.1:c.*1733T>C XP_011515440.1:n.*1733T>C
XM_011517138.2:c.*1733T>C XP_011515440.1:n.*1733T>C
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