Canonical Allele Identifier: CA2687825534
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86647683-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86647683G>T , CM000670.2:g.86647683G>T GRCh38
NC_000008.10:g.87659911G>T , CM000670.1:g.87659911G>T GRCh37
NC_000008.9:g.87729027G>T NCBI36
NG_016980.1:g.100993C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.990+118C>A MANE Select ENSP00000316605.5:n.990+118C>A
ENST00000681546.1:n.810+118C>A
ENST00000681746.1:c.990+118C>A ENSP00000505959.1:n.990+118C>A
ENST00000320005.5:c.990+118C>A ENSP00000316605.5:n.990+118C>A
NM_019098.4:c.990+118C>A NP_061971.3:n.990+118C>A
XM_011517138.1:c.576+118C>A XP_011515440.1:n.576+118C>A
XM_011517138.2:c.576+118C>A XP_011515440.1:n.576+118C>A
NM_019098.5:c.990+118C>A MANE Select NP_061971.3:n.990+118C>A
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