Canonical Allele Identifier: CA462114158
Gene: CNGB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.87588152A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575924A>T , CM000670.2:g.86575924A>T GRCh38
NC_000008.10:g.87588152A>T , CM000670.1:g.87588152A>T GRCh37
NC_000008.9:g.87657268A>T NCBI36
NG_016980.1:g.172752T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2310T>A MANE Select ENSP00000316605.5:p.Val770=
ENST00000681546.1:n.2130T>A
ENST00000681746.1:c.*721T>A ENSP00000505959.1:n.*721T>A
ENST00000320005.5:c.2310T>A ENSP00000316605.5:p.Val770=
ENST00000517327.5:c.276+2765T>A ENSP00000428329.1:n.276+2765T>A
NM_019098.4:c.2310T>A NP_061971.3:p.Val770=
XM_011517138.1:c.1896T>A XP_011515440.1:p.Val632=
XM_011517138.2:c.1896T>A XP_011515440.1:p.Val632=
NM_019098.5:c.2310T>A MANE Select NP_061971.3:p.Val770=