Canonical Allele Identifier: CA427819513

Gene: CNGA3

Linked Data

• dbSNP Id: rs1412056378
• gnomAD v2: 2-99012524-C-T
• gnomAD v4: 2-98396061-C-T
• MyVariant Identifiers: chr2:g.99012524C>T (hg19) ; chr2:g.98396061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396061C>T , CM000664.2:g.98396061C>T	GRCh38
NC_000002.11:g.99012524C>T , CM000664.1:g.99012524C>T	GRCh37
NC_000002.10:g.98378956C>T	NCBI36
NG_009097.1:g.54907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.891C>T MANE Select	ENSP00000272602.2:p.Tyr297=
ENST00000272602.6:c.891C>T	ENSP00000272602.2:p.Tyr297=
ENST00000393504.5:c.891C>T	ENSP00000377140.1:p.Tyr297=
ENST00000409937.1:c.903C>T	ENSP00000386761.1:p.Tyr301=
ENST00000436404.6:c.837C>T	ENSP00000410070.2:p.Tyr279=
NM_001079878.1:c.837C>T	NP_001073347.1:p.Tyr279=
NM_001298.2:c.891C>T	NP_001289.1:p.Tyr297=
XM_006712243.2:c.1002C>T	XP_006712306.1:p.Tyr334=
XM_011510554.1:c.1056C>T	XP_011508856.1:p.Tyr352=
XM_011510554.2:c.1056C>T	XP_011508856.1:p.Tyr352=
NM_001079878.2:c.837C>T	NP_001073347.1:p.Tyr279=
NM_001298.3:c.891C>T MANE Select	NP_001289.1:p.Tyr297=