Canonical Allele Identifier: CA2687827974
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86739768-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739768T>A , CM000670.2:g.86739768T>A GRCh38
NC_000008.10:g.87751996T>A , CM000670.1:g.87751996T>A GRCh37
NC_000008.9:g.87821112T>A NCBI36
NG_016980.1:g.8908A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-32A>T MANE Select ENSP00000316605.5:n.130-32A>T
ENST00000681746.1:c.130-32A>T ENSP00000505959.1:n.130-32A>T
ENST00000320005.5:c.130-32A>T ENSP00000316605.5:n.130-32A>T
ENST00000519777.1:n.112-32A>T
NM_019098.4:c.130-32A>T NP_061971.3:n.130-32A>T
NM_019098.5:c.130-32A>T MANE Select NP_061971.3:n.130-32A>T