Canonical Allele Identifier: CA371456771
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1383352007
gnomAD v3: 8-86739718-C-T
gnomAD v4: 8-86739718-C-T
MyVariant Identifiers: chr8:g.87751946C>T (hg19) chr8:g.86739718C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739718C>T , CM000670.2:g.86739718C>T GRCh38
NC_000008.10:g.87751946C>T , CM000670.1:g.87751946C>T GRCh37
NC_000008.9:g.87821062C>T NCBI36
NG_016980.1:g.8958G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.148G>A MANE Select ENSP00000316605.5:p.Glu50Lys
ENST00000681746.1:c.148G>A ENSP00000505959.1:p.Glu50Lys
ENST00000320005.5:c.148G>A ENSP00000316605.5:p.Glu50Lys
ENST00000519777.1:n.130G>A
NM_019098.4:c.148G>A NP_061971.3:p.Glu50Lys
NM_019098.5:c.148G>A MANE Select NP_061971.3:p.Glu50Lys
Search 100 bp 5'
Search 100 bp 3'