Canonical Allele Identifier: CA1794038

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 284151
• ClinVar RCV Id: RCV000393061 ; RCV000964405 ; RCV001139696
• dbSNP Id: rs61752503
• ExAC: 2:99013202 C / T
• gnomAD v2: 2-99013202-C-T
• gnomAD v3: 2-98396739-C-T
• gnomAD v4: 2-98396739-C-T
• MyVariant Identifiers: chr2:g.99013202C>T (hg19) ; chr2:g.98396739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396739C>T , CM000664.2:g.98396739C>T	GRCh38
NC_000002.11:g.99013202C>T , CM000664.1:g.99013202C>T	GRCh37
NC_000002.10:g.98379634C>T	NCBI36
NG_009097.1:g.55585C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1569C>T MANE Select	ENSP00000272602.2:p.Asn523=
ENST00000272602.6:c.1569C>T	ENSP00000272602.2:p.Asn523=
ENST00000393504.5:c.1569C>T	ENSP00000377140.1:p.Asn523=
ENST00000409937.1:c.1581C>T	ENSP00000386761.1:p.Asn527=
ENST00000436404.6:c.1515C>T	ENSP00000410070.2:p.Asn505=
NM_001079878.1:c.1515C>T	NP_001073347.1:p.Asn505=
NM_001298.2:c.1569C>T	NP_001289.1:p.Asn523=
XM_006712243.2:c.1680C>T	XP_006712306.1:p.Asn560=
XM_011510554.1:c.1734C>T	XP_011508856.1:p.Asn578=
XM_011510554.2:c.1734C>T	XP_011508856.1:p.Asn578=
NM_001079878.2:c.1515C>T	NP_001073347.1:p.Asn505=
NM_001298.3:c.1569C>T MANE Select	NP_001289.1:p.Asn523=