Canonical Allele Identifier: CA582920874
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1271570491
gnomAD v2: 8-87680185-G-T
gnomAD v3: 8-86667957-G-T
gnomAD v4: 8-86667957-G-T
MyVariant Identifiers: chr8:g.87680185G>T (hg19) chr8:g.86667957G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86667957G>T , CM000670.2:g.86667957G>T GRCh38
NC_000008.10:g.87680185G>T , CM000670.1:g.87680185G>T GRCh37
NC_000008.9:g.87749301G>T NCBI36
NG_016980.1:g.80719C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.643+62C>A MANE Select ENSP00000316605.5:n.643+62C>A
ENST00000681746.1:c.643+62C>A ENSP00000505959.1:n.643+62C>A
ENST00000320005.5:c.643+62C>A ENSP00000316605.5:n.643+62C>A
NM_019098.4:c.643+62C>A NP_061971.3:n.643+62C>A
XM_011517138.1:c.229+62C>A XP_011515440.1:n.229+62C>A
XM_011517138.2:c.229+62C>A XP_011515440.1:n.229+62C>A
NM_019098.5:c.643+62C>A MANE Select NP_061971.3:n.643+62C>A
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