Canonical Allele Identifier: CA371444061
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632769A>G , CM000670.2:g.86632769A>G GRCh38
NC_000008.10:g.87644997A>G , CM000670.1:g.87644997A>G GRCh37
NC_000008.9:g.87714113A>G NCBI36
NG_016980.1:g.115907T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1303T>C MANE Select ENSP00000316605.5:p.Ser435Pro
ENST00000681546.1:n.1123T>C
ENST00000681746.1:c.1303T>C ENSP00000505959.1:p.Ser435Pro
ENST00000320005.5:c.1303T>C ENSP00000316605.5:p.Ser435Pro
NM_019098.4:c.1303T>C NP_061971.3:p.Ser435Pro
XM_011517138.1:c.889T>C XP_011515440.1:p.Ser297Pro
XM_011517138.2:c.889T>C XP_011515440.1:p.Ser297Pro
NM_019098.5:c.1303T>C MANE Select NP_061971.3:p.Ser435Pro