Canonical Allele Identifier: CA582921382
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1307744427
gnomAD v2: 8-87683590-A-G
MyVariant Identifiers: chr8:g.87683590A>G (hg19) chr8:g.86671362A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671362A>G , CM000670.2:g.86671362A>G GRCh38
NC_000008.10:g.87683590A>G , CM000670.1:g.87683590A>G GRCh37
NC_000008.9:g.87752706A>G NCBI36
NG_016980.1:g.77314T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.339-264T>C MANE Select ENSP00000316605.5:n.339-264T>C
ENST00000680314.1:n.100-264T>C
ENST00000681746.1:c.339-264T>C ENSP00000505959.1:n.339-264T>C
ENST00000320005.5:c.339-264T>C ENSP00000316605.5:n.339-264T>C
NM_019098.4:c.339-264T>C NP_061971.3:n.339-264T>C
XM_011517138.1:c.-76-264T>C XP_011515440.1:n.-76-264T>C
XM_011517138.2:c.-76-264T>C XP_011515440.1:n.-76-264T>C
NM_019098.5:c.339-264T>C MANE Select NP_061971.3:n.339-264T>C
Search 100 bp 5'
Search 100 bp 3'