Canonical Allele Identifier: CA180363875
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs550607124
gnomAD v3: 8-86667912-T-C
gnomAD v4: 8-86667912-T-C
MyVariant Identifiers: chr8:g.87680140T>C (hg19) chr8:g.86667912T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86667912T>C , CM000670.2:g.86667912T>C GRCh38
NC_000008.10:g.87680140T>C , CM000670.1:g.87680140T>C GRCh37
NC_000008.9:g.87749256T>C NCBI36
NG_016980.1:g.80764A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.643+107A>G MANE Select ENSP00000316605.5:n.643+107A>G
ENST00000681746.1:c.643+107A>G ENSP00000505959.1:n.643+107A>G
ENST00000320005.5:c.643+107A>G ENSP00000316605.5:n.643+107A>G
NM_019098.4:c.643+107A>G NP_061971.3:n.643+107A>G
XM_011517138.1:c.229+107A>G XP_011515440.1:n.229+107A>G
XM_011517138.2:c.229+107A>G XP_011515440.1:n.229+107A>G
NM_019098.5:c.643+107A>G MANE Select NP_061971.3:n.643+107A>G
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