Canonical Allele Identifier: CA371443141
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87641170G>C (hg19) chr8:g.86628942G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86628942G>C , CM000670.2:g.86628942G>C GRCh38
NC_000008.10:g.87641170G>C , CM000670.1:g.87641170G>C GRCh37
NC_000008.9:g.87710286G>C NCBI36
NG_016980.1:g.119734C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1457C>G MANE Select ENSP00000316605.5:p.Thr486Arg
ENST00000681546.1:n.1277C>G
ENST00000681746.1:c.1457C>G ENSP00000505959.1:p.Thr486Arg
ENST00000320005.5:c.1457C>G ENSP00000316605.5:p.Thr486Arg
NM_019098.4:c.1457C>G NP_061971.3:p.Thr486Arg
XM_011517138.1:c.1043C>G XP_011515440.1:p.Thr348Arg
XM_011517138.2:c.1043C>G XP_011515440.1:p.Thr348Arg
NM_019098.5:c.1457C>G MANE Select NP_061971.3:p.Thr486Arg
Search 100 bp 5'
Search 100 bp 3'