Canonical Allele Identifier: CA1116237172
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v3: 8-86739612-A-T
gnomAD v4: 8-86739612-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739612A>T , CM000670.2:g.86739612A>T GRCh38
NC_000008.10:g.87751840A>T , CM000670.1:g.87751840A>T GRCh37
NC_000008.9:g.87820956A>T NCBI36
NG_016980.1:g.9064T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.211+43T>A MANE Select ENSP00000316605.5:n.211+43T>A
ENST00000681746.1:c.211+43T>A ENSP00000505959.1:n.211+43T>A
ENST00000320005.5:c.211+43T>A ENSP00000316605.5:n.211+43T>A
ENST00000519777.1:n.193+43T>A
NM_019098.4:c.211+43T>A NP_061971.3:n.211+43T>A
NM_019098.5:c.211+43T>A MANE Select NP_061971.3:n.211+43T>A
Search 100 bp 5'
Search 100 bp 3'