Canonical Allele Identifier: CA4799736
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 554970
ClinVar RCV Id: RCV000670701 RCV001245682 RCV001830448
dbSNP Id: rs753083465
ExAC: 8:87588079 C / T
gnomAD v2: 8-87588079-C-T
gnomAD v3: 8-86575851-C-T
gnomAD v4: 8-86575851-C-T
MyVariant Identifiers: chr8:g.87588079C>T (hg19) chr8:g.86575851C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575851C>T , CM000670.2:g.86575851C>T GRCh38
NC_000008.10:g.87588079C>T , CM000670.1:g.87588079C>T GRCh37
NC_000008.9:g.87657195C>T NCBI36
NG_016980.1:g.172825G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2383G>A MANE Select ENSP00000316605.5:p.Gly795Arg
ENST00000681546.1:n.2203G>A
ENST00000681746.1:c.*794G>A ENSP00000505959.1:n.*794G>A
ENST00000320005.5:c.2383G>A ENSP00000316605.5:p.Gly795Arg
ENST00000517327.5:c.276+2838G>A ENSP00000428329.1:n.276+2838G>A
NM_019098.4:c.2383G>A NP_061971.3:p.Gly795Arg
XM_011517138.1:c.1969G>A XP_011515440.1:p.Gly657Arg
XM_011517138.2:c.1969G>A XP_011515440.1:p.Gly657Arg
NM_019098.5:c.2383G>A MANE Select NP_061971.3:p.Gly795Arg
Search 100 bp 5'
Search 100 bp 3'