Canonical Allele Identifier: CA4800035
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1587197
ClinVar RCV Id: RCV002103092
dbSNP Id: rs35365413
ExAC: 8:87641222 A / T
gnomAD v2: 8-87641222-A-T
gnomAD v3: 8-86628994-A-T
gnomAD v4: 8-86628994-A-T
MyVariant Identifiers: chr8:g.87641222A>T (hg19) chr8:g.86628994A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86628994A>T , CM000670.2:g.86628994A>T GRCh38
NC_000008.10:g.87641222A>T , CM000670.1:g.87641222A>T GRCh37
NC_000008.9:g.87710338A>T NCBI36
NG_016980.1:g.119682T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1405T>A MANE Select ENSP00000316605.5:p.Tyr469Asn
ENST00000681546.1:n.1225T>A
ENST00000681746.1:c.1405T>A ENSP00000505959.1:p.Tyr469Asn
ENST00000320005.5:c.1405T>A ENSP00000316605.5:p.Tyr469Asn
NM_019098.4:c.1405T>A NP_061971.3:p.Tyr469Asn
XM_011517138.1:c.991T>A XP_011515440.1:p.Tyr331Asn
XM_011517138.2:c.991T>A XP_011515440.1:p.Tyr331Asn
NM_019098.5:c.1405T>A MANE Select NP_061971.3:p.Tyr469Asn
Search 100 bp 5'
Search 100 bp 3'