Canonical Allele Identifier: CA4800333
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 798920
ClinVar RCV Id: RCV000982491
dbSNP Id: rs557864352
ExAC: 8:87680257 A / G
gnomAD v2: 8-87680257-A-G
gnomAD v3: 8-86668029-A-G
gnomAD v4: 8-86668029-A-G
MyVariant Identifiers: chr8:g.87680257A>G (hg19) chr8:g.86668029A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668029A>G , CM000670.2:g.86668029A>G GRCh38
NC_000008.10:g.87680257A>G , CM000670.1:g.87680257A>G GRCh37
NC_000008.9:g.87749373A>G NCBI36
NG_016980.1:g.80647T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.633T>C MANE Select ENSP00000316605.5:p.Asp211=
ENST00000681746.1:c.633T>C ENSP00000505959.1:p.Asp211=
ENST00000320005.5:c.633T>C ENSP00000316605.5:p.Asp211=
NM_019098.4:c.633T>C NP_061971.3:p.Asp211=
XM_011517138.1:c.219T>C XP_011515440.1:p.Asp73=
XM_011517138.2:c.219T>C XP_011515440.1:p.Asp73=
NM_019098.5:c.633T>C MANE Select NP_061971.3:p.Asp211=
Search 100 bp 5'
Search 100 bp 3'