Canonical Allele Identifier: CA461831281
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87683275G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671047G>T , CM000670.2:g.86671047G>T GRCh38
NC_000008.10:g.87683275G>T , CM000670.1:g.87683275G>T GRCh37
NC_000008.9:g.87752391G>T NCBI36
NG_016980.1:g.77629C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.390C>A MANE Select ENSP00000316605.5:p.Ala130=
ENST00000680314.1:n.151C>A
ENST00000681746.1:c.390C>A ENSP00000505959.1:p.Ala130=
ENST00000320005.5:c.390C>A ENSP00000316605.5:p.Ala130=
NM_019098.4:c.390C>A NP_061971.3:p.Ala130=
XM_011517138.1:c.-25C>A XP_011515440.1:n.-25C>A
XM_011517138.2:c.-25C>A XP_011515440.1:n.-25C>A
NM_019098.5:c.390C>A MANE Select NP_061971.3:p.Ala130=