Canonical Allele Identifier: CA180366337
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs902718785
gnomAD v2: 8-87683059-C-T
gnomAD v3: 8-86670831-C-T
gnomAD v4: 8-86670831-C-T
MyVariant Identifiers: chr8:g.87683059C>T (hg19) chr8:g.86670831C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670831C>T , CM000670.2:g.86670831C>T GRCh38
NC_000008.10:g.87683059C>T , CM000670.1:g.87683059C>T GRCh37
NC_000008.9:g.87752175C>T NCBI36
NG_016980.1:g.77845G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+113G>A MANE Select ENSP00000316605.5:n.493+113G>A
ENST00000680314.1:n.254+113G>A
ENST00000681746.1:c.493+113G>A ENSP00000505959.1:n.493+113G>A
ENST00000320005.5:c.493+113G>A ENSP00000316605.5:n.493+113G>A
NM_019098.4:c.493+113G>A NP_061971.3:n.493+113G>A
XM_011517138.1:c.79+113G>A XP_011515440.1:n.79+113G>A
XM_011517138.2:c.79+113G>A XP_011515440.1:n.79+113G>A
NM_019098.5:c.493+113G>A MANE Select NP_061971.3:n.493+113G>A
Search 100 bp 5'
Search 100 bp 3'