Canonical Allele Identifier: CA4800150
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1592281
ClinVar RCV Id: RCV002122206
dbSNP Id: rs758061248
ExAC: 8:87656012 G / A
gnomAD v2: 8-87656012-G-A
gnomAD v3: 8-86643784-G-A
gnomAD v4: 8-86643784-G-A
MyVariant Identifiers: chr8:g.87656012G>A (hg19) chr8:g.86643784G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643784G>A , CM000670.2:g.86643784G>A GRCh38
NC_000008.10:g.87656012G>A , CM000670.1:g.87656012G>A GRCh37
NC_000008.9:g.87725128G>A NCBI36
NG_016980.1:g.104892C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1145C>T MANE Select ENSP00000316605.5:p.Thr382Ile
ENST00000681546.1:n.965C>T
ENST00000681746.1:c.1145C>T ENSP00000505959.1:p.Thr382Ile
ENST00000320005.5:c.1145C>T ENSP00000316605.5:p.Thr382Ile
NM_019098.4:c.1145C>T NP_061971.3:p.Thr382Ile
XM_011517138.1:c.731C>T XP_011515440.1:p.Thr244Ile
XM_011517138.2:c.731C>T XP_011515440.1:p.Thr244Ile
NM_019098.5:c.1145C>T MANE Select NP_061971.3:p.Thr382Ile
Search 100 bp 5'
Search 100 bp 3'