Canonical Allele Identifier: CA371450043
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670953G>A , CM000670.2:g.86670953G>A GRCh38
NC_000008.10:g.87683181G>A , CM000670.1:g.87683181G>A GRCh37
NC_000008.9:g.87752297G>A NCBI36
NG_016980.1:g.77723C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.484C>T MANE Select ENSP00000316605.5:p.Pro162Ser
ENST00000680314.1:n.245C>T
ENST00000681746.1:c.484C>T ENSP00000505959.1:p.Pro162Ser
ENST00000320005.5:c.484C>T ENSP00000316605.5:p.Pro162Ser
NM_019098.4:c.484C>T NP_061971.3:p.Pro162Ser
XM_011517138.1:c.70C>T XP_011515440.1:p.Pro24Ser
XM_011517138.2:c.70C>T XP_011515440.1:p.Pro24Ser
NM_019098.5:c.484C>T MANE Select NP_061971.3:p.Pro162Ser