Canonical Allele Identifier: CA856374385
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1156421545
MyVariant Identifiers: chr8:g.87586737T>C (hg19) chr8:g.86574509T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574509T>C , CM000670.2:g.86574509T>C GRCh38
NC_000008.10:g.87586737T>C , CM000670.1:g.87586737T>C GRCh37
NC_000008.9:g.87655853T>C NCBI36
NG_016980.1:g.174167A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.*1295A>G MANE Select ENSP00000316605.5:n.*1295A>G
ENST00000681546.1:n.3545A>G
ENST00000681746.1:c.*2136A>G ENSP00000505959.1:n.*2136A>G
ENST00000320005.5:c.*1295A>G ENSP00000316605.5:n.*1295A>G
ENST00000517327.5:c.276+4180A>G ENSP00000428329.1:n.276+4180A>G
NM_019098.4:c.*1295A>G NP_061971.3:n.*1295A>G
XM_011517138.1:c.*1295A>G XP_011515440.1:n.*1295A>G
XM_011517138.2:c.*1295A>G XP_011515440.1:n.*1295A>G
NM_019098.5:c.*1295A>G MANE Select NP_061971.3:n.*1295A>G
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