Canonical Allele Identifier: CA371449903
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1038271
ClinVar RCV Id: RCV001341553
dbSNP Id: rs1222298434
MyVariant Identifiers: chr8:g.87680343G>C (hg19) chr8:g.86668115G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668115G>C , CM000670.2:g.86668115G>C GRCh38
NC_000008.10:g.87680343G>C , CM000670.1:g.87680343G>C GRCh37
NC_000008.9:g.87749459G>C NCBI36
NG_016980.1:g.80561C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.547C>G MANE Select ENSP00000316605.5:p.His183Asp
ENST00000681746.1:c.547C>G ENSP00000505959.1:p.His183Asp
ENST00000320005.5:c.547C>G ENSP00000316605.5:p.His183Asp
NM_019098.4:c.547C>G NP_061971.3:p.His183Asp
XM_011517138.1:c.133C>G XP_011515440.1:p.His45Asp
XM_011517138.2:c.133C>G XP_011515440.1:p.His45Asp
NM_019098.5:c.547C>G MANE Select NP_061971.3:p.His183Asp
Search 100 bp 5'
Search 100 bp 3'