Canonical Allele Identifier: CA2573143395
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1421459
ClinVar RCV Id: RCV001943798
dbSNP Id: rs2131529554
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576054_86576055delinsCC , CM000670.2:g.86576054_86576055delinsCC GRCh38
NC_000008.10:g.87588282_87588283delinsCC , CM000670.1:g.87588282_87588283delinsCC GRCh37
NC_000008.9:g.87657398_87657399delinsCC NCBI36
NG_016980.1:g.172621_172622delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2179_2180delinsGG MANE Select ENSP00000316605.5:p.Gln727Gly
ENST00000681546.1:n.1999_2000delinsGG
ENST00000681746.1:c.*590_*591delinsGG ENSP00000505959.1:n.*590_*591delinsGG
ENST00000320005.5:c.2179_2180delinsGG ENSP00000316605.5:p.Gln727Gly
ENST00000517327.5:c.276+2634_276+2635delinsGG ENSP00000428329.1:n.276+2634_276+2635delinsGG
NM_019098.4:c.2179_2180delinsGG NP_061971.3:p.Gln727Gly
XM_011517138.1:c.1765_1766delinsGG XP_011515440.1:p.Gln589Gly
XM_011517138.2:c.1765_1766delinsGG XP_011515440.1:p.Gln589Gly
NM_019098.5:c.2179_2180delinsGG MANE Select NP_061971.3:p.Gln727Gly
Search 100 bp 5'
Search 100 bp 3'