Canonical Allele Identifier: CA4800091
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 865973
ClinVar RCV Id: RCV001073612 RCV001862509
dbSNP Id: rs372302139
ExAC: 8:87645045 C / T
gnomAD v2: 8-87645045-C-T
gnomAD v4: 8-86632817-C-T
MyVariant Identifiers: chr8:g.87645045C>T (hg19) chr8:g.86632817C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632817C>T , CM000670.2:g.86632817C>T GRCh38
NC_000008.10:g.87645045C>T , CM000670.1:g.87645045C>T GRCh37
NC_000008.9:g.87714161C>T NCBI36
NG_016980.1:g.115859G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1255G>A MANE Select ENSP00000316605.5:p.Glu419Lys
ENST00000681546.1:n.1075G>A
ENST00000681746.1:c.1255G>A ENSP00000505959.1:p.Glu419Lys
ENST00000320005.5:c.1255G>A ENSP00000316605.5:p.Glu419Lys
NM_019098.4:c.1255G>A NP_061971.3:p.Glu419Lys
XM_011517138.1:c.841G>A XP_011515440.1:p.Glu281Lys
XM_011517138.2:c.841G>A XP_011515440.1:p.Glu281Lys
NM_019098.5:c.1255G>A MANE Select NP_061971.3:p.Glu419Lys
Search 100 bp 5'
Search 100 bp 3'