Canonical Allele Identifier: CA371446074
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575860C>A , CM000670.2:g.86575860C>A GRCh38
NC_000008.10:g.87588088C>A , CM000670.1:g.87588088C>A GRCh37
NC_000008.9:g.87657204C>A NCBI36
NG_016980.1:g.172816G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2374G>T MANE Select ENSP00000316605.5:p.Ala792Ser
ENST00000681546.1:n.2194G>T
ENST00000681746.1:c.*785G>T ENSP00000505959.1:n.*785G>T
ENST00000320005.5:c.2374G>T ENSP00000316605.5:p.Ala792Ser
ENST00000517327.5:c.276+2829G>T ENSP00000428329.1:n.276+2829G>T
NM_019098.4:c.2374G>T NP_061971.3:p.Ala792Ser
XM_011517138.1:c.1960G>T XP_011515440.1:p.Ala654Ser
XM_011517138.2:c.1960G>T XP_011515440.1:p.Ala654Ser
NM_019098.5:c.2374G>T MANE Select NP_061971.3:p.Ala792Ser