Canonical Allele Identifier: CA2660314904
Gene: CNGA3 HGNC NCBI

Linked Data

gnomAD v4: 2-98389559-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98389559T>A , CM000664.2:g.98389559T>A GRCh38
NC_000002.11:g.99006022T>A , CM000664.1:g.99006022T>A GRCh37
NC_000002.10:g.98372454T>A NCBI36
NG_009097.1:g.48405T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272602.7:c.450-99T>A MANE Select ENSP00000272602.2:n.450-99T>A
ENST00000272602.6:c.450-99T>A ENSP00000272602.2:n.450-99T>A
ENST00000393503.2:n.455-99T>A
ENST00000393504.5:c.450-99T>A ENSP00000377140.1:n.450-99T>A
ENST00000409937.1:c.462-99T>A ENSP00000386761.1:n.462-99T>A
ENST00000436404.6:c.396-99T>A ENSP00000410070.2:n.396-99T>A
NM_001079878.1:c.396-99T>A NP_001073347.1:n.396-99T>A
NM_001298.2:c.450-99T>A NP_001289.1:n.450-99T>A
XM_006712243.2:c.561-99T>A XP_006712306.1:n.561-99T>A
XM_011510554.1:c.615-99T>A XP_011508856.1:n.615-99T>A
XM_011510554.2:c.615-99T>A XP_011508856.1:n.615-99T>A
NM_001079878.2:c.396-99T>A NP_001073347.1:n.396-99T>A
NM_001298.3:c.450-99T>A MANE Select NP_001289.1:n.450-99T>A