Canonical Allele Identifier: CA4799730
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 523799
ClinVar RCV Id: RCV000627268 RCV001275878
dbSNP Id: rs151039691
ExAC: 8:87588052 T / A
gnomAD v2: 8-87588052-T-A
gnomAD v3: 8-86575824-T-A
gnomAD v4: 8-86575824-T-A
MyVariant Identifiers: chr8:g.87588052T>A (hg19) chr8:g.86575824T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575824T>A , CM000670.2:g.86575824T>A GRCh38
NC_000008.10:g.87588052T>A , CM000670.1:g.87588052T>A GRCh37
NC_000008.9:g.87657168T>A NCBI36
NG_016980.1:g.172852A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2410A>T MANE Select ENSP00000316605.5:p.Lys804Ter
ENST00000681546.1:n.2230A>T
ENST00000681746.1:c.*821A>T ENSP00000505959.1:n.*821A>T
ENST00000320005.5:c.2410A>T ENSP00000316605.5:p.Lys804Ter
ENST00000517327.5:c.276+2865A>T ENSP00000428329.1:n.276+2865A>T
NM_019098.4:c.2410A>T NP_061971.3:p.Lys804Ter
XM_011517138.1:c.1996A>T XP_011515440.1:p.Lys666Ter
XM_011517138.2:c.1996A>T XP_011515440.1:p.Lys666Ter
NM_019098.5:c.2410A>T MANE Select NP_061971.3:p.Lys804Ter
Search 100 bp 5'
Search 100 bp 3'