Canonical Allele Identifier: CA371456698
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86739682-A-G
MyVariant Identifiers: chr8:g.87751910A>G (hg19) chr8:g.86739682A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739682A>G , CM000670.2:g.86739682A>G GRCh38
NC_000008.10:g.87751910A>G , CM000670.1:g.87751910A>G GRCh37
NC_000008.9:g.87821026A>G NCBI36
NG_016980.1:g.8994T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.184T>C MANE Select ENSP00000316605.5:p.Ser62Pro
ENST00000681746.1:c.184T>C ENSP00000505959.1:p.Ser62Pro
ENST00000320005.5:c.184T>C ENSP00000316605.5:p.Ser62Pro
ENST00000519777.1:n.166T>C
NM_019098.4:c.184T>C NP_061971.3:p.Ser62Pro
NM_019098.5:c.184T>C MANE Select NP_061971.3:p.Ser62Pro
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