Canonical Allele Identifier: CA340372
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 5227
dbSNP Id: rs35365413
gnomAD v2: 8-87641222-A-C
gnomAD v3: 8-86628994-A-C
gnomAD v4: 8-86628994-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86628994A>C , CM000670.2:g.86628994A>C GRCh38
NC_000008.10:g.87641222A>C , CM000670.1:g.87641222A>C GRCh37
NC_000008.9:g.87710338A>C NCBI36
NG_016980.1:g.119682T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1405T>G MANE Select ENSP00000316605.5:p.Tyr469Asp
ENST00000681546.1:n.1225T>G
ENST00000681746.1:c.1405T>G ENSP00000505959.1:p.Tyr469Asp
ENST00000320005.5:c.1405T>G ENSP00000316605.5:p.Tyr469Asp
NM_019098.4:c.1405T>G NP_061971.3:p.Tyr469Asp
XM_011517138.1:c.991T>G XP_011515440.1:p.Tyr331Asp
XM_011517138.2:c.991T>G XP_011515440.1:p.Tyr331Asp
NM_019098.5:c.1405T>G MANE Select NP_061971.3:p.Tyr469Asp