Canonical Allele Identifier: CA1799825471
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1823232052
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643498A>G , CM000670.2:g.86643498A>G GRCh38
NC_000008.10:g.87655726A>G , CM000670.1:g.87655726A>G GRCh37
NC_000008.9:g.87724842A>G NCBI36
NG_016980.1:g.105178T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1178+253T>C MANE Select ENSP00000316605.5:n.1178+253T>C
ENST00000681546.1:n.998+253T>C
ENST00000681746.1:c.1178+253T>C ENSP00000505959.1:n.1178+253T>C
ENST00000320005.5:c.1178+253T>C ENSP00000316605.5:n.1178+253T>C
NM_019098.4:c.1178+253T>C NP_061971.3:n.1178+253T>C
XM_011517138.1:c.764+253T>C XP_011515440.1:n.764+253T>C
XM_011517138.2:c.764+253T>C XP_011515440.1:n.764+253T>C
NM_019098.5:c.1178+253T>C MANE Select NP_061971.3:n.1178+253T>C
Search 100 bp 5'
Search 100 bp 3'