Canonical Allele Identifier: CA2687828045
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86739884-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739884A>C , CM000670.2:g.86739884A>C GRCh38
NC_000008.10:g.87752112A>C , CM000670.1:g.87752112A>C GRCh37
NC_000008.9:g.87821228A>C NCBI36
NG_016980.1:g.8792T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-148T>G MANE Select ENSP00000316605.5:n.130-148T>G
ENST00000681746.1:c.130-148T>G ENSP00000505959.1:n.130-148T>G
ENST00000320005.5:c.130-148T>G ENSP00000316605.5:n.130-148T>G
ENST00000519777.1:n.112-148T>G
NM_019098.4:c.130-148T>G NP_061971.3:n.130-148T>G
NM_019098.5:c.130-148T>G MANE Select NP_061971.3:n.130-148T>G
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