Canonical Allele Identifier: CA1799825633
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1823759384
gnomAD v4: 8-86667168-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86667168A>T , CM000670.2:g.86667168A>T GRCh38
NC_000008.10:g.87679396A>T , CM000670.1:g.87679396A>T GRCh37
NC_000008.9:g.87748512A>T NCBI36
NG_016980.1:g.81508T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.644-35T>A MANE Select ENSP00000316605.5:n.644-35T>A
ENST00000681746.1:c.644-35T>A ENSP00000505959.1:n.644-35T>A
ENST00000320005.5:c.644-35T>A ENSP00000316605.5:n.644-35T>A
NM_019098.4:c.644-35T>A NP_061971.3:n.644-35T>A
XM_011517138.1:c.230-35T>A XP_011515440.1:n.230-35T>A
XM_011517138.2:c.230-35T>A XP_011515440.1:n.230-35T>A
NM_019098.5:c.644-35T>A MANE Select NP_061971.3:n.644-35T>A
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