Canonical Allele Identifier: CA371446533
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2001408
ClinVar RCV Id: RCV002815411
dbSNP Id: rs1178410869
MyVariant Identifiers: chr8:g.87588298C>G (hg19) chr8:g.86576070C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576070C>G , CM000670.2:g.86576070C>G GRCh38
NC_000008.10:g.87588298C>G , CM000670.1:g.87588298C>G GRCh37
NC_000008.9:g.87657414C>G NCBI36
NG_016980.1:g.172606G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2164G>C MANE Select ENSP00000316605.5:p.Glu722Gln
ENST00000681546.1:n.1984G>C
ENST00000681746.1:c.*575G>C ENSP00000505959.1:n.*575G>C
ENST00000320005.5:c.2164G>C ENSP00000316605.5:p.Glu722Gln
ENST00000517327.5:c.276+2619G>C ENSP00000428329.1:n.276+2619G>C
NM_019098.4:c.2164G>C NP_061971.3:p.Glu722Gln
XM_011517138.1:c.1750G>C XP_011515440.1:p.Glu584Gln
XM_011517138.2:c.1750G>C XP_011515440.1:p.Glu584Gln
NM_019098.5:c.2164G>C MANE Select NP_061971.3:p.Glu722Gln
Search 100 bp 5'
Search 100 bp 3'