Canonical Allele Identifier: CA16621756
Gene: CNGA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 425211
ClinVar RCV Id: RCV000487872
dbSNP Id: rs1064797258
MyVariant Identifiers: chr2:g.99006219G>A (hg19) chr2:g.98389756G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98389756G>A , CM000664.2:g.98389756G>A GRCh38
NC_000002.11:g.99006219G>A , CM000664.1:g.99006219G>A GRCh37
NC_000002.10:g.98372651G>A NCBI36
NG_009097.1:g.48602G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272602.7:c.548G>A MANE Select ENSP00000272602.2:p.Trp183Ter
ENST00000272602.6:c.548G>A ENSP00000272602.2:p.Trp183Ter
ENST00000393503.2:n.553G>A
ENST00000393504.5:c.548G>A ENSP00000377140.1:p.Trp183Ter
ENST00000409937.1:c.560G>A ENSP00000386761.1:p.Trp187Ter
ENST00000436404.6:c.494G>A ENSP00000410070.2:p.Trp165Ter
NM_001079878.1:c.494G>A NP_001073347.1:p.Trp165Ter
NM_001298.2:c.548G>A NP_001289.1:p.Trp183Ter
XM_006712243.2:c.659G>A XP_006712306.1:p.Trp220Ter
XM_011510554.1:c.713G>A XP_011508856.1:p.Trp238Ter
XM_011510554.2:c.713G>A XP_011508856.1:p.Trp238Ter
NM_001079878.2:c.494G>A NP_001073347.1:p.Trp165Ter
NM_001298.3:c.548G>A MANE Select NP_001289.1:p.Trp183Ter
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