Canonical Allele Identifier: CA347831619

Gene: CNGA3

Linked Data

• dbSNP Id: rs1432305934
• gnomAD v2: 2-99006220-G-T
• gnomAD v4: 2-98389757-G-T
• MyVariant Identifiers: chr2:g.99006220G>T (hg19) ; chr2:g.98389757G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389757G>T , CM000664.2:g.98389757G>T	GRCh38
NC_000002.11:g.99006220G>T , CM000664.1:g.99006220G>T	GRCh37
NC_000002.10:g.98372652G>T	NCBI36
NG_009097.1:g.48603G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.549G>T MANE Select	ENSP00000272602.2:p.Trp183Cys
ENST00000272602.6:c.549G>T	ENSP00000272602.2:p.Trp183Cys
ENST00000393503.2:n.554G>T
ENST00000393504.5:c.549G>T	ENSP00000377140.1:p.Trp183Cys
ENST00000409937.1:c.561G>T	ENSP00000386761.1:p.Trp187Cys
ENST00000436404.6:c.495G>T	ENSP00000410070.2:p.Trp165Cys
NM_001079878.1:c.495G>T	NP_001073347.1:p.Trp165Cys
NM_001298.2:c.549G>T	NP_001289.1:p.Trp183Cys
XM_006712243.2:c.660G>T	XP_006712306.1:p.Trp220Cys
XM_011510554.1:c.714G>T	XP_011508856.1:p.Trp238Cys
XM_011510554.2:c.714G>T	XP_011508856.1:p.Trp238Cys
NM_001079878.2:c.495G>T	NP_001073347.1:p.Trp165Cys
NM_001298.3:c.549G>T MANE Select	NP_001289.1:p.Trp183Cys