Canonical Allele Identifier: CA10625865
Gene: CNGB3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.86574433C>A
GRCh37 chr8:g.87586661C>A
gnomAD v2:
8:87586661 C / A
gnomAD v3:
8:86574433 C / A
gnomAD v4:
chr8-86574433-C-A
Joint Max Group AF 0.00377101 (SAS)
Genomes Max Group AF 0.00377101 (SAS)
ClinVar RCV:
RCV000328305
RCV000378267
ClinVar Variation:
363848
dbSNP:
372688369
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574433C>A , CM000670.2:g.86574433C>A GRCh38
NC_000008.10:g.87586661C>A , CM000670.1:g.87586661C>A GRCh37
NC_000008.9:g.87655777C>A NCBI36
NG_016980.1:g.174243G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*1371G>T MANE Select ENSP00000316605.5:n.*1371G>T
ENST00000681546.1:n.3621G>T
ENST00000681746.1:c.*2212G>T ENSP00000505959.1:n.*2212G>T
ENST00000320005.5:c.*1371G>T ENSP00000316605.5:n.*1371G>T
ENST00000517327.5:c.276+4256G>T ENSP00000428329.1:n.276+4256G>T
NM_019098.4:c.*1371G>T NP_061971.3:n.*1371G>T
XM_011517138.1:c.*1371G>T XP_011515440.1:n.*1371G>T
XM_011517138.2:c.*1371G>T XP_011515440.1:n.*1371G>T
NM_019098.5:c.*1371G>T MANE Select NP_061971.3:n.*1371G>T
Search 100 bp 5'
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