Canonical Allele Identifier: CA10631673
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 363843
ClinVar RCV Id: RCV000297130 RCV000398362
dbSNP Id: rs886063154
gnomAD v3: 8-86574103-G-A
gnomAD v4: 8-86574103-G-A
MyVariant Identifiers: chr8:g.87586331G>A (hg19) chr8:g.86574103G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574103G>A , CM000670.2:g.86574103G>A GRCh38
NC_000008.10:g.87586331G>A , CM000670.1:g.87586331G>A GRCh37
NC_000008.9:g.87655447G>A NCBI36
NG_016980.1:g.174573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681746.1:c.*2542C>T ENSP00000505959.1:n.*2542C>T
ENST00000320005.5:c.*1701C>T ENSP00000316605.5:n.*1701C>T
ENST00000517327.5:c.276+4586C>T ENSP00000428329.1:n.276+4586C>T
NM_019098.4:c.*1701C>T NP_061971.3:n.*1701C>T
XM_011517138.1:c.*1701C>T XP_011515440.1:n.*1701C>T
XM_011517138.2:c.*1701C>T XP_011515440.1:n.*1701C>T
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