Canonical Allele Identifier: CA10631678
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 363850
ClinVar RCV Id: RCV000280351 RCV000379480
dbSNP Id: rs17683284
gnomAD v2: 8-87586729-C-T
gnomAD v3: 8-86574501-C-T
gnomAD v4: 8-86574501-C-T
MyVariant Identifiers: chr8:g.87586729C>T (hg19) chr8:g.86574501C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574501C>T , CM000670.2:g.86574501C>T GRCh38
NC_000008.10:g.87586729C>T , CM000670.1:g.87586729C>T GRCh37
NC_000008.9:g.87655845C>T NCBI36
NG_016980.1:g.174175G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*1303G>A MANE Select ENSP00000316605.5:n.*1303G>A
ENST00000681546.1:n.3553G>A
ENST00000681746.1:c.*2144G>A ENSP00000505959.1:n.*2144G>A
ENST00000320005.5:c.*1303G>A ENSP00000316605.5:n.*1303G>A
ENST00000517327.5:c.276+4188G>A ENSP00000428329.1:n.276+4188G>A
NM_019098.4:c.*1303G>A NP_061971.3:n.*1303G>A
XM_011517138.1:c.*1303G>A XP_011515440.1:n.*1303G>A
XM_011517138.2:c.*1303G>A XP_011515440.1:n.*1303G>A
NM_019098.5:c.*1303G>A MANE Select NP_061971.3:n.*1303G>A
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