Canonical Allele Identifier: CA4800455
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 493482
ClinVar RCV Id: RCV000585434 RCV001272754
dbSNP Id: rs762689312
ExAC: 8:87738876 G / A
gnomAD v2: 8-87738876-G-A
gnomAD v3: 8-86726648-G-A
gnomAD v4: 8-86726648-G-A
MyVariant Identifiers: chr8:g.87738876G>A (hg19) chr8:g.86726648G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86726648G>A , CM000670.2:g.86726648G>A GRCh38
NC_000008.10:g.87738876G>A , CM000670.1:g.87738876G>A GRCh37
NC_000008.9:g.87807992G>A NCBI36
NG_016980.1:g.22028C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.221C>T MANE Select ENSP00000316605.5:p.Ser74Phe
ENST00000681746.1:c.221C>T ENSP00000505959.1:p.Ser74Phe
ENST00000320005.5:c.221C>T ENSP00000316605.5:p.Ser74Phe
ENST00000519777.1:n.203C>T
NM_019098.4:c.221C>T NP_061971.3:p.Ser74Phe
NM_019098.5:c.221C>T MANE Select NP_061971.3:p.Ser74Phe
Search 100 bp 5'
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