Canonical Allele Identifier: CA1116225052
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1822994845
gnomAD v3: 8-86633130-C-T
gnomAD v4: 8-86633130-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86633130C>T , CM000670.2:g.86633130C>T GRCh38
NC_000008.10:g.87645358C>T , CM000670.1:g.87645358C>T GRCh37
NC_000008.9:g.87714474C>T NCBI36
NG_016980.1:g.115546G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1179-237G>A MANE Select ENSP00000316605.5:n.1179-237G>A
ENST00000681546.1:n.999-237G>A
ENST00000681746.1:c.1179-237G>A ENSP00000505959.1:n.1179-237G>A
ENST00000320005.5:c.1179-237G>A ENSP00000316605.5:n.1179-237G>A
NM_019098.4:c.1179-237G>A NP_061971.3:n.1179-237G>A
XM_011517138.1:c.765-237G>A XP_011515440.1:n.765-237G>A
XM_011517138.2:c.765-237G>A XP_011515440.1:n.765-237G>A
NM_019098.5:c.1179-237G>A MANE Select NP_061971.3:n.1179-237G>A
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