Canonical Allele Identifier: CA2781158382
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739525A>T , CM000670.2:g.86739525A>T GRCh38
NC_000008.10:g.87751753A>T , CM000670.1:g.87751753A>T GRCh37
NC_000008.9:g.87820869A>T NCBI36
NG_016980.1:g.9151T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+130T>A MANE Select ENSP00000316605.5:n.211+130T>A
ENST00000681746.1:c.211+130T>A ENSP00000505959.1:n.211+130T>A
ENST00000320005.5:c.211+130T>A ENSP00000316605.5:n.211+130T>A
ENST00000519777.1:n.193+130T>A
NM_019098.4:c.211+130T>A NP_061971.3:n.211+130T>A
NM_019098.5:c.211+130T>A MANE Select NP_061971.3:n.211+130T>A