Canonical Allele Identifier: CA1799783478
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1585940644
gnomAD v4: 8-86575508-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575508G>A , CM000670.2:g.86575508G>A GRCh38
NC_000008.10:g.87587736G>A , CM000670.1:g.87587736G>A GRCh37
NC_000008.9:g.87656852G>A NCBI36
NG_016980.1:g.173168C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*296C>T MANE Select ENSP00000316605.5:n.*296C>T
ENST00000681546.1:n.2546C>T
ENST00000681746.1:c.*1137C>T ENSP00000505959.1:n.*1137C>T
ENST00000320005.5:c.*296C>T ENSP00000316605.5:n.*296C>T
ENST00000517327.5:c.276+3181C>T ENSP00000428329.1:n.276+3181C>T
NM_019098.4:c.*296C>T NP_061971.3:n.*296C>T
XM_011517138.1:c.*296C>T XP_011515440.1:n.*296C>T
XM_011517138.2:c.*296C>T XP_011515440.1:n.*296C>T
NM_019098.5:c.*296C>T MANE Select NP_061971.3:n.*296C>T