Canonical Allele Identifier: CA4800094
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1156929
ClinVar RCV Id: RCV001499811
dbSNP Id: rs964996310
ExAC: 8:87645049 T / C
gnomAD v2: 8-87645049-T-C
gnomAD v3: 8-86632821-T-C
gnomAD v4: 8-86632821-T-C
MyVariant Identifiers: chr8:g.87645049T>C (hg19) chr8:g.87645049_87645050delinsCA (hg19) chr8:g.86632821T>C (hg38) chr8:g.86632821_86632822delinsCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632821T>C , CM000670.2:g.86632821T>C GRCh38
NC_000008.10:g.87645049T>C , CM000670.1:g.87645049T>C GRCh37
NC_000008.9:g.87714165T>C NCBI36
NG_016980.1:g.115855A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1251A>G MANE Select ENSP00000316605.5:p.Leu417=
ENST00000681546.1:n.1071A>G
ENST00000681746.1:c.1251A>G ENSP00000505959.1:p.Leu417=
ENST00000320005.5:c.1251A>G ENSP00000316605.5:p.Leu417=
NM_019098.4:c.1251A>G NP_061971.3:p.Leu417=
XM_011517138.1:c.837A>G XP_011515440.1:p.Leu279=
XM_011517138.2:c.837A>G XP_011515440.1:p.Leu279=
NM_019098.5:c.1251A>G MANE Select NP_061971.3:p.Leu417=
Search 100 bp 5'
Search 100 bp 3'