Canonical Allele Identifier: CA347831955

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012333A>T (hg19) ; chr2:g.98395870A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395870A>T , CM000664.2:g.98395870A>T	GRCh38
NC_000002.11:g.99012333A>T , CM000664.1:g.99012333A>T	GRCh37
NC_000002.10:g.98378765A>T	NCBI36
NG_009097.1:g.54716A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.700A>T MANE Select	ENSP00000272602.2:p.Ser234Cys
ENST00000272602.6:c.700A>T	ENSP00000272602.2:p.Ser234Cys
ENST00000393504.5:c.700A>T	ENSP00000377140.1:p.Ser234Cys
ENST00000409937.1:c.712A>T	ENSP00000386761.1:p.Ser238Cys
ENST00000436404.6:c.646A>T	ENSP00000410070.2:p.Ser216Cys
NM_001079878.1:c.646A>T	NP_001073347.1:p.Ser216Cys
NM_001298.2:c.700A>T	NP_001289.1:p.Ser234Cys
XM_006712243.2:c.811A>T	XP_006712306.1:p.Ser271Cys
XM_011510554.1:c.865A>T	XP_011508856.1:p.Ser289Cys
XM_011510554.2:c.865A>T	XP_011508856.1:p.Ser289Cys
NM_001079878.2:c.646A>T	NP_001073347.1:p.Ser216Cys
NM_001298.3:c.700A>T MANE Select	NP_001289.1:p.Ser234Cys