Canonical Allele Identifier: CA461831207
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1586006673
MyVariant Identifiers: chr8:g.87683209C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670981C>T , CM000670.2:g.86670981C>T GRCh38
NC_000008.10:g.87683209C>T , CM000670.1:g.87683209C>T GRCh37
NC_000008.9:g.87752325C>T NCBI36
NG_016980.1:g.77695G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.456G>A MANE Select ENSP00000316605.5:p.Glu152=
ENST00000680314.1:n.217G>A
ENST00000681746.1:c.456G>A ENSP00000505959.1:p.Glu152=
ENST00000320005.5:c.456G>A ENSP00000316605.5:p.Glu152=
NM_019098.4:c.456G>A NP_061971.3:p.Glu152=
XM_011517138.1:c.42G>A XP_011515440.1:p.Glu14=
XM_011517138.2:c.42G>A XP_011515440.1:p.Glu14=
NM_019098.5:c.456G>A MANE Select NP_061971.3:p.Glu152=