Canonical Allele Identifier: CA371446221
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1196951376
gnomAD v3: 8-86575934-G-T
gnomAD v4: 8-86575934-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575934G>T , CM000670.2:g.86575934G>T GRCh38
NC_000008.10:g.87588162G>T , CM000670.1:g.87588162G>T GRCh37
NC_000008.9:g.87657278G>T NCBI36
NG_016980.1:g.172742C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2300C>A MANE Select ENSP00000316605.5:p.Pro767His
ENST00000681546.1:n.2120C>A
ENST00000681746.1:c.*711C>A ENSP00000505959.1:n.*711C>A
ENST00000320005.5:c.2300C>A ENSP00000316605.5:p.Pro767His
ENST00000517327.5:c.276+2755C>A ENSP00000428329.1:n.276+2755C>A
NM_019098.4:c.2300C>A NP_061971.3:p.Pro767His
XM_011517138.1:c.1886C>A XP_011515440.1:p.Pro629His
XM_011517138.2:c.1886C>A XP_011515440.1:p.Pro629His
NM_019098.5:c.2300C>A MANE Select NP_061971.3:p.Pro767His