Canonical Allele Identifier: CA254820
Gene: CNGA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9474
dbSNP Id: rs104893613

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396017C>T , CM000664.2:g.98396017C>T GRCh38
NC_000002.11:g.99012480C>T , CM000664.1:g.99012480C>T GRCh37
NC_000002.10:g.98378912C>T NCBI36
NG_009097.1:g.54863C>T

Transcript Alleles

HGVS Amino-acid change
NM_001079878.1:c.793C>T VV NP_001073347.1:p.Arg265Trp
NM_001298.2:c.847C>T VV NP_001289.1:p.Arg283Trp
XM_006712243.2:c.958C>T XP_006712306.1:p.Arg320Trp
XM_011510554.1:c.1012C>T XP_011508856.1:p.Arg338Trp
XM_011510554.2:c.1012C>T
ENST00000272602.6:c.847C>T ENSP00000272602.2:p.Arg283Trp
ENST00000393504.5:c.847C>T ENSP00000377140.1:p.Arg283Trp
ENST00000409937.1:c.859C>T ENSP00000386761.1:p.Arg287Trp
ENST00000436404.6:c.793C>T ENSP00000410070.2:p.Arg265Trp