Canonical Allele Identifier: CA652506842
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668186A>G , CM000670.2:g.86668186A>G GRCh38
NC_000008.10:g.87680414A>G , CM000670.1:g.87680414A>G GRCh37
NC_000008.9:g.87749530A>G NCBI36
NG_016980.1:g.80490T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.494-18T>C MANE Select ENSP00000316605.5:n.494-18T>C
ENST00000680314.1:n.255-18T>C
ENST00000681746.1:c.494-18T>C ENSP00000505959.1:n.494-18T>C
ENST00000320005.5:c.494-18T>C ENSP00000316605.5:n.494-18T>C
NM_019098.4:c.494-18T>C NP_061971.3:n.494-18T>C
XM_011517138.1:c.80-18T>C XP_011515440.1:n.80-18T>C
XM_011517138.2:c.80-18T>C XP_011515440.1:n.80-18T>C
NM_019098.5:c.494-18T>C MANE Select NP_061971.3:n.494-18T>C