Canonical Allele Identifier: CA4800418
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs755429797
gnomAD v2: 8-87683312-G-T
gnomAD v4: 8-86671084-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671084G>T , CM000670.2:g.86671084G>T GRCh38
NC_000008.10:g.87683312G>T , CM000670.1:g.87683312G>T GRCh37
NC_000008.9:g.87752428G>T NCBI36
NG_016980.1:g.77592C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.353C>A MANE Select ENSP00000316605.5:p.Pro118Gln
ENST00000680314.1:n.114C>A
ENST00000681746.1:c.353C>A ENSP00000505959.1:p.Pro118Gln
ENST00000320005.5:c.353C>A ENSP00000316605.5:p.Pro118Gln
NM_019098.4:c.353C>A NP_061971.3:p.Pro118Gln
XM_011517138.1:c.-62C>A XP_011515440.1:n.-62C>A
XM_011517138.2:c.-62C>A XP_011515440.1:n.-62C>A
NM_019098.5:c.353C>A MANE Select NP_061971.3:p.Pro118Gln