Canonical Allele Identifier: CA371450292
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86671069-A-T
MyVariant Identifiers: chr8:g.87683297A>T (hg19) chr8:g.86671069A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671069A>T , CM000670.2:g.86671069A>T GRCh38
NC_000008.10:g.87683297A>T , CM000670.1:g.87683297A>T GRCh37
NC_000008.9:g.87752413A>T NCBI36
NG_016980.1:g.77607T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.368T>A MANE Select ENSP00000316605.5:p.Val123Asp
ENST00000680314.1:n.129T>A
ENST00000681746.1:c.368T>A ENSP00000505959.1:p.Val123Asp
ENST00000320005.5:c.368T>A ENSP00000316605.5:p.Val123Asp
NM_019098.4:c.368T>A NP_061971.3:p.Val123Asp
XM_011517138.1:c.-47T>A XP_011515440.1:n.-47T>A
XM_011517138.2:c.-47T>A XP_011515440.1:n.-47T>A
NM_019098.5:c.368T>A MANE Select NP_061971.3:p.Val123Asp
Search 100 bp 5'
Search 100 bp 3'