Canonical Allele Identifier: CA347832090

Gene: CNGA3

Linked Data

• dbSNP Id: rs1692900161
• gnomAD v3: 2-98395928-T-C
• gnomAD v4: 2-98395928-T-C
• MyVariant Identifiers: chr2:g.99012391T>C (hg19) ; chr2:g.98395928T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395928T>C , CM000664.2:g.98395928T>C	GRCh38
NC_000002.11:g.99012391T>C , CM000664.1:g.99012391T>C	GRCh37
NC_000002.10:g.98378823T>C	NCBI36
NG_009097.1:g.54774T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.758T>C MANE Select	ENSP00000272602.2:p.Val253Ala
ENST00000272602.6:c.758T>C	ENSP00000272602.2:p.Val253Ala
ENST00000393504.5:c.758T>C	ENSP00000377140.1:p.Val253Ala
ENST00000409937.1:c.770T>C	ENSP00000386761.1:p.Val257Ala
ENST00000436404.6:c.704T>C	ENSP00000410070.2:p.Val235Ala
NM_001079878.1:c.704T>C	NP_001073347.1:p.Val235Ala
NM_001298.2:c.758T>C	NP_001289.1:p.Val253Ala
XM_006712243.2:c.869T>C	XP_006712306.1:p.Val290Ala
XM_011510554.1:c.923T>C	XP_011508856.1:p.Val308Ala
XM_011510554.2:c.923T>C	XP_011508856.1:p.Val308Ala
NM_001079878.2:c.704T>C	NP_001073347.1:p.Val235Ala
NM_001298.3:c.758T>C MANE Select	NP_001289.1:p.Val253Ala