Canonical Allele Identifier: CA371450115
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86670986-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670986C>T , CM000670.2:g.86670986C>T GRCh38
NC_000008.10:g.87683214C>T , CM000670.1:g.87683214C>T GRCh37
NC_000008.9:g.87752330C>T NCBI36
NG_016980.1:g.77690G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.451G>A MANE Select ENSP00000316605.5:p.Val151Ile
ENST00000680314.1:n.212G>A
ENST00000681746.1:c.451G>A ENSP00000505959.1:p.Val151Ile
ENST00000320005.5:c.451G>A ENSP00000316605.5:p.Val151Ile
NM_019098.4:c.451G>A NP_061971.3:p.Val151Ile
XM_011517138.1:c.37G>A XP_011515440.1:p.Val13Ile
XM_011517138.2:c.37G>A XP_011515440.1:p.Val13Ile
NM_019098.5:c.451G>A MANE Select NP_061971.3:p.Val151Ile