Canonical Allele Identifier: CA1799889970
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs764478487
gnomAD v4: 8-86739623-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739623T>C , CM000670.2:g.86739623T>C GRCh38
NC_000008.10:g.87751851T>C , CM000670.1:g.87751851T>C GRCh37
NC_000008.9:g.87820967T>C NCBI36
NG_016980.1:g.9053A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+32A>G MANE Select ENSP00000316605.5:n.211+32A>G
ENST00000681746.1:c.211+32A>G ENSP00000505959.1:n.211+32A>G
ENST00000320005.5:c.211+32A>G ENSP00000316605.5:n.211+32A>G
ENST00000519777.1:n.193+32A>G
NM_019098.4:c.211+32A>G NP_061971.3:n.211+32A>G
NM_019098.5:c.211+32A>G MANE Select NP_061971.3:n.211+32A>G
Search 100 bp 5'
Search 100 bp 3'