Canonical Allele Identifier: CA347831980

Gene: CNGA3

Linked Data

• gnomAD v4: 2-98395880-A-G
• MyVariant Identifiers: chr2:g.99012343A>G (hg19) ; chr2:g.98395880A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395880A>G , CM000664.2:g.98395880A>G	GRCh38
NC_000002.11:g.99012343A>G , CM000664.1:g.99012343A>G	GRCh37
NC_000002.10:g.98378775A>G	NCBI36
NG_009097.1:g.54726A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.710A>G MANE Select	ENSP00000272602.2:p.Asn237Ser
ENST00000272602.6:c.710A>G	ENSP00000272602.2:p.Asn237Ser
ENST00000393504.5:c.710A>G	ENSP00000377140.1:p.Asn237Ser
ENST00000409937.1:c.722A>G	ENSP00000386761.1:p.Asn241Ser
ENST00000436404.6:c.656A>G	ENSP00000410070.2:p.Asn219Ser
NM_001079878.1:c.656A>G	NP_001073347.1:p.Asn219Ser
NM_001298.2:c.710A>G	NP_001289.1:p.Asn237Ser
XM_006712243.2:c.821A>G	XP_006712306.1:p.Asn274Ser
XM_011510554.1:c.875A>G	XP_011508856.1:p.Asn292Ser
XM_011510554.2:c.875A>G	XP_011508856.1:p.Asn292Ser
NM_001079878.2:c.656A>G	NP_001073347.1:p.Asn219Ser
NM_001298.3:c.710A>G MANE Select	NP_001289.1:p.Asn237Ser