Canonical Allele Identifier: CA2687827864
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86739619-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739619A>G , CM000670.2:g.86739619A>G GRCh38
NC_000008.10:g.87751847A>G , CM000670.1:g.87751847A>G GRCh37
NC_000008.9:g.87820963A>G NCBI36
NG_016980.1:g.9057T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.211+36T>C MANE Select ENSP00000316605.5:n.211+36T>C
ENST00000681746.1:c.211+36T>C ENSP00000505959.1:n.211+36T>C
ENST00000320005.5:c.211+36T>C ENSP00000316605.5:n.211+36T>C
ENST00000519777.1:n.193+36T>C
NM_019098.4:c.211+36T>C NP_061971.3:n.211+36T>C
NM_019098.5:c.211+36T>C MANE Select NP_061971.3:n.211+36T>C
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