Canonical Allele Identifier: CA371456657
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 547039
ClinVar RCV Id: RCV000659108
dbSNP Id: rs1210492203
gnomAD v3: 8-86739663-T-C
gnomAD v4: 8-86739663-T-C
MyVariant Identifiers: chr8:g.87751891T>C (hg19) chr8:g.86739663T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739663T>C , CM000670.2:g.86739663T>C GRCh38
NC_000008.10:g.87751891T>C , CM000670.1:g.87751891T>C GRCh37
NC_000008.9:g.87821007T>C NCBI36
NG_016980.1:g.9013A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.203A>G MANE Select ENSP00000316605.5:p.Asn68Ser
ENST00000681746.1:c.203A>G ENSP00000505959.1:p.Asn68Ser
ENST00000320005.5:c.203A>G ENSP00000316605.5:p.Asn68Ser
ENST00000519777.1:n.185A>G
NM_019098.4:c.203A>G NP_061971.3:p.Asn68Ser
NM_019098.5:c.203A>G MANE Select NP_061971.3:p.Asn68Ser
Search 100 bp 5'
Search 100 bp 3'