Canonical Allele Identifier: CA347832303
Gene: CNGA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396033T>C , CM000664.2:g.98396033T>C GRCh38
NC_000002.11:g.99012496T>C , CM000664.1:g.99012496T>C GRCh37
NC_000002.10:g.98378928T>C NCBI36
NG_009097.1:g.54879T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272602.7:c.863T>C MANE Select ENSP00000272602.2:p.Phe288Ser
ENST00000272602.6:c.863T>C ENSP00000272602.2:p.Phe288Ser
ENST00000393504.5:c.863T>C ENSP00000377140.1:p.Phe288Ser
ENST00000409937.1:c.875T>C ENSP00000386761.1:p.Phe292Ser
ENST00000436404.6:c.809T>C ENSP00000410070.2:p.Phe270Ser
NM_001079878.1:c.809T>C NP_001073347.1:p.Phe270Ser
NM_001298.2:c.863T>C NP_001289.1:p.Phe288Ser
XM_006712243.2:c.974T>C XP_006712306.1:p.Phe325Ser
XM_011510554.1:c.1028T>C XP_011508856.1:p.Phe343Ser
XM_011510554.2:c.1028T>C XP_011508856.1:p.Phe343Ser
NM_001079878.2:c.809T>C NP_001073347.1:p.Phe270Ser
NM_001298.3:c.863T>C MANE Select NP_001289.1:p.Phe288Ser