Canonical Allele Identifier: CA179899
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 166899
dbSNP Id: rs3735972
gnomAD v2: 8-87588198-T-C
gnomAD v3: 8-86575970-T-C
gnomAD v4: 8-86575970-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575970T>C , CM000670.2:g.86575970T>C GRCh38
NC_000008.10:g.87588198T>C , CM000670.1:g.87588198T>C GRCh37
NC_000008.9:g.87657314T>C NCBI36
NG_016980.1:g.172706A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.2264A>G MANE Select ENSP00000316605.5:p.Glu755Gly
ENST00000681546.1:n.2084A>G
ENST00000681746.1:c.*675A>G ENSP00000505959.1:n.*675A>G
ENST00000320005.5:c.2264A>G ENSP00000316605.5:p.Glu755Gly
ENST00000517327.5:c.276+2719A>G ENSP00000428329.1:n.276+2719A>G
NM_019098.4:c.2264A>G NP_061971.3:p.Glu755Gly
XM_011517138.1:c.1850A>G XP_011515440.1:p.Glu617Gly
XM_011517138.2:c.1850A>G XP_011515440.1:p.Glu617Gly
NM_019098.5:c.2264A>G MANE Select NP_061971.3:p.Glu755Gly