Canonical Allele Identifier: CA371448320
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86647887-A-C
MyVariant Identifiers: chr8:g.87660115A>C (hg19) chr8:g.86647887A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647887A>C , CM000670.2:g.86647887A>C GRCh38
NC_000008.10:g.87660115A>C , CM000670.1:g.87660115A>C GRCh37
NC_000008.9:g.87729231A>C NCBI36
NG_016980.1:g.100789T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.904T>G MANE Select ENSP00000316605.5:p.Leu302Val
ENST00000681546.1:n.724T>G
ENST00000681746.1:c.904T>G ENSP00000505959.1:p.Leu302Val
ENST00000320005.5:c.904T>G ENSP00000316605.5:p.Leu302Val
NM_019098.4:c.904T>G NP_061971.3:p.Leu302Val
XM_011517138.1:c.490T>G XP_011515440.1:p.Leu164Val
XM_011517138.2:c.490T>G XP_011515440.1:p.Leu164Val
NM_019098.5:c.904T>G MANE Select NP_061971.3:p.Leu302Val
Search 100 bp 5'
Search 100 bp 3'