Canonical Allele Identifier: CA371446851
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86643823-C-T
MyVariant Identifiers: chr8:g.87656051C>T (hg19) chr8:g.86643823C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643823C>T , CM000670.2:g.86643823C>T GRCh38
NC_000008.10:g.87656051C>T , CM000670.1:g.87656051C>T GRCh37
NC_000008.9:g.87725167C>T NCBI36
NG_016980.1:g.104853G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1106G>A MANE Select ENSP00000316605.5:p.Cys369Tyr
ENST00000681546.1:n.926G>A
ENST00000681746.1:c.1106G>A ENSP00000505959.1:p.Cys369Tyr
ENST00000320005.5:c.1106G>A ENSP00000316605.5:p.Cys369Tyr
NM_019098.4:c.1106G>A NP_061971.3:p.Cys369Tyr
XM_011517138.1:c.692G>A XP_011515440.1:p.Cys231Tyr
XM_011517138.2:c.692G>A XP_011515440.1:p.Cys231Tyr
NM_019098.5:c.1106G>A MANE Select NP_061971.3:p.Cys369Tyr
Search 100 bp 5'
Search 100 bp 3'