Canonical Allele Identifier: CA10631709
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 363874
ClinVar RCV Id: RCV000327065 RCV000363049 RCV001346392 RCV001828364
dbSNP Id: rs886063160
gnomAD v3: 8-86643769-T-C
gnomAD v4: 8-86643769-T-C
MyVariant Identifiers: chr8:g.87655997T>C (hg19) chr8:g.86643769T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643769T>C , CM000670.2:g.86643769T>C GRCh38
NC_000008.10:g.87655997T>C , CM000670.1:g.87655997T>C GRCh37
NC_000008.9:g.87725113T>C NCBI36
NG_016980.1:g.104907A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1160A>G MANE Select ENSP00000316605.5:p.Tyr387Cys
ENST00000681546.1:n.980A>G
ENST00000681746.1:c.1160A>G ENSP00000505959.1:p.Tyr387Cys
ENST00000320005.5:c.1160A>G ENSP00000316605.5:p.Tyr387Cys
NM_019098.4:c.1160A>G NP_061971.3:p.Tyr387Cys
XM_011517138.1:c.746A>G XP_011515440.1:p.Tyr249Cys
XM_011517138.2:c.746A>G XP_011515440.1:p.Tyr249Cys
NM_019098.5:c.1160A>G MANE Select NP_061971.3:p.Tyr387Cys
Search 100 bp 5'
Search 100 bp 3'