Canonical Allele Identifier: CA4800155
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 846148
ClinVar RCV Id: RCV001049380 RCV001272745
dbSNP Id: rs145619853
ExAC: 8:87656040 A / G
gnomAD v2: 8-87656040-A-G
gnomAD v3: 8-86643812-A-G
gnomAD v4: 8-86643812-A-G
MyVariant Identifiers: chr8:g.87656040A>G (hg19) chr8:g.86643812A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643812A>G , CM000670.2:g.86643812A>G GRCh38
NC_000008.10:g.87656040A>G , CM000670.1:g.87656040A>G GRCh37
NC_000008.9:g.87725156A>G NCBI36
NG_016980.1:g.104864T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1117T>C MANE Select ENSP00000316605.5:p.Trp373Arg
ENST00000681546.1:n.937T>C
ENST00000681746.1:c.1117T>C ENSP00000505959.1:p.Trp373Arg
ENST00000320005.5:c.1117T>C ENSP00000316605.5:p.Trp373Arg
NM_019098.4:c.1117T>C NP_061971.3:p.Trp373Arg
XM_011517138.1:c.703T>C XP_011515440.1:p.Trp235Arg
XM_011517138.2:c.703T>C XP_011515440.1:p.Trp235Arg
NM_019098.5:c.1117T>C MANE Select NP_061971.3:p.Trp373Arg
Search 100 bp 5'
Search 100 bp 3'