Canonical Allele Identifier: CA371446758
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1823237582
gnomAD v3: 8-86643781-G-A
gnomAD v4: 8-86643781-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643781G>A , CM000670.2:g.86643781G>A GRCh38
NC_000008.10:g.87656009G>A , CM000670.1:g.87656009G>A GRCh37
NC_000008.9:g.87725125G>A NCBI36
NG_016980.1:g.104895C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1148C>T MANE Select ENSP00000316605.5:p.Thr383Ile
ENST00000681546.1:n.968C>T
ENST00000681746.1:c.1148C>T ENSP00000505959.1:p.Thr383Ile
ENST00000320005.5:c.1148C>T ENSP00000316605.5:p.Thr383Ile
NM_019098.4:c.1148C>T NP_061971.3:p.Thr383Ile
XM_011517138.1:c.734C>T XP_011515440.1:p.Thr245Ile
XM_011517138.2:c.734C>T XP_011515440.1:p.Thr245Ile
NM_019098.5:c.1148C>T MANE Select NP_061971.3:p.Thr383Ile