Canonical Allele Identifier: CA4800093
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2087149
ClinVar RCV Id: RCV003017778
dbSNP Id: rs774891602
ExAC: 8:87645048 A / G
gnomAD v2: 8-87645048-A-G
MyVariant Identifiers: chr8:g.87645048A>G (hg19) chr8:g.86632820A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632820A>G , CM000670.2:g.86632820A>G GRCh38
NC_000008.10:g.87645048A>G , CM000670.1:g.87645048A>G GRCh37
NC_000008.9:g.87714164A>G NCBI36
NG_016980.1:g.115856T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1252T>C MANE Select ENSP00000316605.5:p.Phe418Leu
ENST00000681546.1:n.1072T>C
ENST00000681746.1:c.1252T>C ENSP00000505959.1:p.Phe418Leu
ENST00000320005.5:c.1252T>C ENSP00000316605.5:p.Phe418Leu
NM_019098.4:c.1252T>C NP_061971.3:p.Phe418Leu
XM_011517138.1:c.838T>C XP_011515440.1:p.Phe280Leu
XM_011517138.2:c.838T>C XP_011515440.1:p.Phe280Leu
NM_019098.5:c.1252T>C MANE Select NP_061971.3:p.Phe418Leu
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