Canonical Allele Identifier: CA461814132
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87645103A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632875A>G , CM000670.2:g.86632875A>G GRCh38
NC_000008.10:g.87645103A>G , CM000670.1:g.87645103A>G GRCh37
NC_000008.9:g.87714219A>G NCBI36
NG_016980.1:g.115801T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1197T>C MANE Select ENSP00000316605.5:p.Tyr399=
ENST00000681546.1:n.1017T>C
ENST00000681746.1:c.1197T>C ENSP00000505959.1:p.Tyr399=
ENST00000320005.5:c.1197T>C ENSP00000316605.5:p.Tyr399=
NM_019098.4:c.1197T>C NP_061971.3:p.Tyr399=
XM_011517138.1:c.783T>C XP_011515440.1:p.Tyr261=
XM_011517138.2:c.783T>C XP_011515440.1:p.Tyr261=
NM_019098.5:c.1197T>C MANE Select NP_061971.3:p.Tyr399=