Canonical Allele Identifier: CA4800141
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2143375
ClinVar RCV Id: RCV003076691
dbSNP Id: rs538823901
ExAC: 8:87655980 C / T
gnomAD v2: 8-87655980-C-T
gnomAD v3: 8-86643752-C-T
gnomAD v4: 8-86643752-C-T
MyVariant Identifiers: chr8:g.87655980C>T (hg19) chr8:g.86643752C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643752C>T , CM000670.2:g.86643752C>T GRCh38
NC_000008.10:g.87655980C>T , CM000670.1:g.87655980C>T GRCh37
NC_000008.9:g.87725096C>T NCBI36
NG_016980.1:g.104924G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1177G>A MANE Select ENSP00000316605.5:p.Glu393Lys
ENST00000681546.1:n.997G>A
ENST00000681746.1:c.1177G>A ENSP00000505959.1:p.Glu393Lys
ENST00000320005.5:c.1177G>A ENSP00000316605.5:p.Glu393Lys
NM_019098.4:c.1177G>A NP_061971.3:p.Glu393Lys
XM_011517138.1:c.763G>A XP_011515440.1:p.Glu255Lys
XM_011517138.2:c.763G>A XP_011515440.1:p.Glu255Lys
NM_019098.5:c.1177G>A MANE Select NP_061971.3:p.Glu393Lys
Search 100 bp 5'
Search 100 bp 3'