Canonical Allele Identifier: CA856344700
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1402343269
gnomAD v3: 8-86643473-C-G
gnomAD v4: 8-86643473-C-G
MyVariant Identifiers: chr8:g.87655701C>G (hg19) chr8:g.86643473C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643473C>G , CM000670.2:g.86643473C>G GRCh38
NC_000008.10:g.87655701C>G , CM000670.1:g.87655701C>G GRCh37
NC_000008.9:g.87724817C>G NCBI36
NG_016980.1:g.105203G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1178+278G>C MANE Select ENSP00000316605.5:n.1178+278G>C
ENST00000681546.1:n.998+278G>C
ENST00000681746.1:c.1178+278G>C ENSP00000505959.1:n.1178+278G>C
ENST00000320005.5:c.1178+278G>C ENSP00000316605.5:n.1178+278G>C
NM_019098.4:c.1178+278G>C NP_061971.3:n.1178+278G>C
XM_011517138.1:c.764+278G>C XP_011515440.1:n.764+278G>C
XM_011517138.2:c.764+278G>C XP_011515440.1:n.764+278G>C
NM_019098.5:c.1178+278G>C MANE Select NP_061971.3:n.1178+278G>C
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