Canonical Allele Identifier: CA1799829076
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs966787014

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670611A>G , CM000670.2:g.86670611A>G GRCh38
NC_000008.10:g.87682839A>G , CM000670.1:g.87682839A>G GRCh37
NC_000008.9:g.87751955A>G NCBI36
NG_016980.1:g.78065T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+333T>C MANE Select ENSP00000316605.5:n.493+333T>C
ENST00000680314.1:n.254+333T>C
ENST00000681746.1:c.493+333T>C ENSP00000505959.1:n.493+333T>C
ENST00000320005.5:c.493+333T>C ENSP00000316605.5:n.493+333T>C
NM_019098.4:c.493+333T>C NP_061971.3:n.493+333T>C
XM_011517138.1:c.79+333T>C XP_011515440.1:n.79+333T>C
XM_011517138.2:c.79+333T>C XP_011515440.1:n.79+333T>C
NM_019098.5:c.493+333T>C MANE Select NP_061971.3:n.493+333T>C