Canonical Allele Identifier: CA347831973

Gene: CNGA3

Linked Data

• gnomAD v4: 2-98395877-C-A
• MyVariant Identifiers: chr2:g.99012340C>A (hg19) ; chr2:g.98395877C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395877C>A , CM000664.2:g.98395877C>A	GRCh38
NC_000002.11:g.99012340C>A , CM000664.1:g.99012340C>A	GRCh37
NC_000002.10:g.98378772C>A	NCBI36
NG_009097.1:g.54723C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.707C>A MANE Select	ENSP00000272602.2:p.Thr236Asn
ENST00000272602.6:c.707C>A	ENSP00000272602.2:p.Thr236Asn
ENST00000393504.5:c.707C>A	ENSP00000377140.1:p.Thr236Asn
ENST00000409937.1:c.719C>A	ENSP00000386761.1:p.Thr240Asn
ENST00000436404.6:c.653C>A	ENSP00000410070.2:p.Thr218Asn
NM_001079878.1:c.653C>A	NP_001073347.1:p.Thr218Asn
NM_001298.2:c.707C>A	NP_001289.1:p.Thr236Asn
XM_006712243.2:c.818C>A	XP_006712306.1:p.Thr273Asn
XM_011510554.1:c.872C>A	XP_011508856.1:p.Thr291Asn
XM_011510554.2:c.872C>A	XP_011508856.1:p.Thr291Asn
NM_001079878.2:c.653C>A	NP_001073347.1:p.Thr218Asn
NM_001298.3:c.707C>A MANE Select	NP_001289.1:p.Thr236Asn