Canonical Allele Identifier: CA4800218
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 261092
dbSNP Id: rs13265557
gnomAD v2: 8-87660100-T-C
gnomAD v3: 8-86647872-T-C
gnomAD v4: 8-86647872-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647872T>C , CM000670.2:g.86647872T>C GRCh38
NC_000008.10:g.87660100T>C , CM000670.1:g.87660100T>C GRCh37
NC_000008.9:g.87729216T>C NCBI36
NG_016980.1:g.100804A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.919A>G MANE Select ENSP00000316605.5:p.Ile307Val
ENST00000681546.1:n.739A>G
ENST00000681746.1:c.919A>G ENSP00000505959.1:p.Ile307Val
ENST00000320005.5:c.919A>G ENSP00000316605.5:p.Ile307Val
NM_019098.4:c.919A>G NP_061971.3:p.Ile307Val
XM_011517138.1:c.505A>G XP_011515440.1:p.Ile169Val
XM_011517138.2:c.505A>G XP_011515440.1:p.Ile169Val
NM_019098.5:c.919A>G MANE Select NP_061971.3:p.Ile307Val