Canonical Allele Identifier: CA1794041

Gene: CNGA3

Linked Data

• dbSNP Id: rs143151855
• ExAC: 2:99013211 G / C
• gnomAD v2: 2-99013211-G-C
• gnomAD v3: 2-98396748-G-C
• gnomAD v4: 2-98396748-G-C
• MyVariant Identifiers: chr2:g.99013211G>C (hg19) ; chr2:g.98396748G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396748G>C , CM000664.2:g.98396748G>C	GRCh38
NC_000002.11:g.99013211G>C , CM000664.1:g.99013211G>C	GRCh37
NC_000002.10:g.98379643G>C	NCBI36
NG_009097.1:g.55594G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1578G>C MANE Select	ENSP00000272602.2:p.Lys526Asn
ENST00000272602.6:c.1578G>C	ENSP00000272602.2:p.Lys526Asn
ENST00000393504.5:c.1578G>C	ENSP00000377140.1:p.Lys526Asn
ENST00000409937.1:c.1590G>C	ENSP00000386761.1:p.Lys530Asn
ENST00000436404.6:c.1524G>C	ENSP00000410070.2:p.Lys508Asn
NM_001079878.1:c.1524G>C	NP_001073347.1:p.Lys508Asn
NM_001298.2:c.1578G>C	NP_001289.1:p.Lys526Asn
XM_006712243.2:c.1689G>C	XP_006712306.1:p.Lys563Asn
XM_011510554.1:c.1743G>C	XP_011508856.1:p.Lys581Asn
XM_011510554.2:c.1743G>C	XP_011508856.1:p.Lys581Asn
NM_001079878.2:c.1524G>C	NP_001073347.1:p.Lys508Asn
NM_001298.3:c.1578G>C MANE Select	NP_001289.1:p.Lys526Asn