Canonical Allele Identifier: CA1116230011
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1823233176
gnomAD v3: 8-86643543-T-G
gnomAD v4: 8-86643543-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643543T>G , CM000670.2:g.86643543T>G GRCh38
NC_000008.10:g.87655771T>G , CM000670.1:g.87655771T>G GRCh37
NC_000008.9:g.87724887T>G NCBI36
NG_016980.1:g.105133A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1178+208A>C MANE Select ENSP00000316605.5:n.1178+208A>C
ENST00000681546.1:n.998+208A>C
ENST00000681746.1:c.1178+208A>C ENSP00000505959.1:n.1178+208A>C
ENST00000320005.5:c.1178+208A>C ENSP00000316605.5:n.1178+208A>C
NM_019098.4:c.1178+208A>C NP_061971.3:n.1178+208A>C
XM_011517138.1:c.764+208A>C XP_011515440.1:n.764+208A>C
XM_011517138.2:c.764+208A>C XP_011515440.1:n.764+208A>C
NM_019098.5:c.1178+208A>C MANE Select NP_061971.3:n.1178+208A>C
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