Canonical Allele Identifier: CA2687826725
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86671156-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671156A>C , CM000670.2:g.86671156A>C GRCh38
NC_000008.10:g.87683384A>C , CM000670.1:g.87683384A>C GRCh37
NC_000008.9:g.87752500A>C NCBI36
NG_016980.1:g.77520T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.339-58T>G MANE Select ENSP00000316605.5:n.339-58T>G
ENST00000680314.1:n.100-58T>G
ENST00000681746.1:c.339-58T>G ENSP00000505959.1:n.339-58T>G
ENST00000320005.5:c.339-58T>G ENSP00000316605.5:n.339-58T>G
NM_019098.4:c.339-58T>G NP_061971.3:n.339-58T>G
XM_011517138.1:c.-76-58T>G XP_011515440.1:n.-76-58T>G
XM_011517138.2:c.-76-58T>G XP_011515440.1:n.-76-58T>G
NM_019098.5:c.339-58T>G MANE Select NP_061971.3:n.339-58T>G
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