Canonical Allele Identifier: CA1793892

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 1064494
• ClinVar RCV Id: RCV001729894
• dbSNP Id: rs374258471
• ExAC: 2:99012411 G / C
• gnomAD v2: 2-99012411-G-C
• gnomAD v4: 2-98395948-G-C
• COSMIC: COSM6092705
• MyVariant Identifiers: chr2:g.99012411G>C (hg19) ; chr2:g.98395948G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395948G>C , CM000664.2:g.98395948G>C	GRCh38
NC_000002.11:g.99012411G>C , CM000664.1:g.99012411G>C	GRCh37
NC_000002.10:g.98378843G>C	NCBI36
NG_009097.1:g.54794G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.778G>C MANE Select	ENSP00000272602.2:p.Asp260His
ENST00000272602.6:c.778G>C	ENSP00000272602.2:p.Asp260His
ENST00000393504.5:c.778G>C	ENSP00000377140.1:p.Asp260His
ENST00000409937.1:c.790G>C	ENSP00000386761.1:p.Asp264His
ENST00000436404.6:c.724G>C	ENSP00000410070.2:p.Asp242His
NM_001079878.1:c.724G>C	NP_001073347.1:p.Asp242His
NM_001298.2:c.778G>C	NP_001289.1:p.Asp260His
XM_006712243.2:c.889G>C	XP_006712306.1:p.Asp297His
XM_011510554.1:c.943G>C	XP_011508856.1:p.Asp315His
XM_011510554.2:c.943G>C	XP_011508856.1:p.Asp315His
NM_001079878.2:c.724G>C	NP_001073347.1:p.Asp242His
NM_001298.3:c.778G>C MANE Select	NP_001289.1:p.Asp260His