Canonical Allele Identifier: CA180875623
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs544394319
gnomAD v3: 8-86739620-G-T
gnomAD v4: 8-86739620-G-T
MyVariant Identifiers: chr8:g.87751848G>T (hg19) chr8:g.86739620G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739620G>T , CM000670.2:g.86739620G>T GRCh38
NC_000008.10:g.87751848G>T , CM000670.1:g.87751848G>T GRCh37
NC_000008.9:g.87820964G>T NCBI36
NG_016980.1:g.9056C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.211+35C>A MANE Select ENSP00000316605.5:n.211+35C>A
ENST00000681746.1:c.211+35C>A ENSP00000505959.1:n.211+35C>A
ENST00000320005.5:c.211+35C>A ENSP00000316605.5:n.211+35C>A
ENST00000519777.1:n.193+35C>A
NM_019098.4:c.211+35C>A NP_061971.3:n.211+35C>A
NM_019098.5:c.211+35C>A MANE Select NP_061971.3:n.211+35C>A
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