Canonical Allele Identifier: CA461812870
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1150626
ClinVar RCV Id: RCV001491269
dbSNP Id: rs1469375860
gnomAD v4: 8-86628935-G-A
MyVariant Identifiers: chr8:g.87641163G>A (hg19) chr8:g.86628935G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86628935G>A , CM000670.2:g.86628935G>A GRCh38
NC_000008.10:g.87641163G>A , CM000670.1:g.87641163G>A GRCh37
NC_000008.9:g.87710279G>A NCBI36
NG_016980.1:g.119741C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1464C>T MANE Select ENSP00000316605.5:p.Asp488=
ENST00000681546.1:n.1284C>T
ENST00000681746.1:c.1464C>T ENSP00000505959.1:p.Asp488=
ENST00000320005.5:c.1464C>T ENSP00000316605.5:p.Asp488=
NM_019098.4:c.1464C>T NP_061971.3:p.Asp488=
XM_011517138.1:c.1050C>T XP_011515440.1:p.Asp350=
XM_011517138.2:c.1050C>T XP_011515440.1:p.Asp350=
NM_019098.5:c.1464C>T MANE Select NP_061971.3:p.Asp488=
Search 100 bp 5'
Search 100 bp 3'