Canonical Allele Identifier: CA4800550
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 493483
ClinVar RCV Id: RCV000585008
dbSNP Id: rs376711003
ExAC: 8:87755845 G / A
gnomAD v2: 8-87755845-G-A
gnomAD v4: 8-86743617-G-A
COSMIC: COSM3651557
MyVariant Identifiers: chr8:g.87755845G>A (hg19) chr8:g.86743617G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86743617G>A , CM000670.2:g.86743617G>A GRCh38
NC_000008.10:g.87755845G>A , CM000670.1:g.87755845G>A GRCh37
NC_000008.9:g.87824961G>A NCBI36
NG_016980.1:g.5059C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.11C>T MANE Select ENSP00000316605.5:p.Ser4Leu
ENST00000681746.1:c.11C>T ENSP00000505959.1:p.Ser4Leu
ENST00000320005.5:c.11C>T ENSP00000316605.5:p.Ser4Leu
NM_019098.4:c.11C>T NP_061971.3:p.Ser4Leu
NM_019098.5:c.11C>T MANE Select NP_061971.3:p.Ser4Leu
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Search 100 bp 3'