Canonical Allele Identifier: CA1799781965
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1821617084
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574326dup , CM000670.2:g.86574326dup GRCh38
NC_000008.10:g.87586554dup , CM000670.1:g.87586554dup GRCh37
NC_000008.9:g.87655670dup NCBI36
NG_016980.1:g.174354dup

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.*1482dup MANE Select ENSP00000316605.5:n.*1482dup
ENST00000681546.1:n.3732dup
ENST00000681746.1:c.*2323dup ENSP00000505959.1:n.*2323dup
ENST00000320005.5:c.*1482dup ENSP00000316605.5:n.*1482dup
ENST00000517327.5:c.276+4367dup ENSP00000428329.1:n.276+4367dup
NM_019098.4:c.*1482dup NP_061971.3:n.*1482dup
XM_011517138.1:c.*1482dup XP_011515440.1:n.*1482dup
XM_011517138.2:c.*1482dup XP_011515440.1:n.*1482dup
NM_019098.5:c.*1482dup MANE Select NP_061971.3:n.*1482dup
Search 100 bp 5'
Search 100 bp 3'