Canonical Allele Identifier: CA1793886

Gene: CNGA3

Linked Data

• dbSNP Id: rs752802989
• ExAC: 2:99012387 G / C
• gnomAD v3: 2-98395924-G-C
• gnomAD v4: 2-98395924-G-C
• MyVariant Identifiers: chr2:g.99012387G>C (hg19) ; chr2:g.98395924G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395924G>C , CM000664.2:g.98395924G>C	GRCh38
NC_000002.11:g.99012387G>C , CM000664.1:g.99012387G>C	GRCh37
NC_000002.10:g.98378819G>C	NCBI36
NG_009097.1:g.54770G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.754G>C MANE Select	ENSP00000272602.2:p.Asp252His
ENST00000272602.6:c.754G>C	ENSP00000272602.2:p.Asp252His
ENST00000393504.5:c.754G>C	ENSP00000377140.1:p.Asp252His
ENST00000409937.1:c.766G>C	ENSP00000386761.1:p.Asp256His
ENST00000436404.6:c.700G>C	ENSP00000410070.2:p.Asp234His
NM_001079878.1:c.700G>C	NP_001073347.1:p.Asp234His
NM_001298.2:c.754G>C	NP_001289.1:p.Asp252His
XM_006712243.2:c.865G>C	XP_006712306.1:p.Asp289His
XM_011510554.1:c.919G>C	XP_011508856.1:p.Asp307His
XM_011510554.2:c.919G>C	XP_011508856.1:p.Asp307His
NM_001079878.2:c.700G>C	NP_001073347.1:p.Asp234His
NM_001298.3:c.754G>C MANE Select	NP_001289.1:p.Asp252His