Canonical Allele Identifier: CA347834084

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99013323A>T (hg19) ; chr2:g.98396860A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396860A>T , CM000664.2:g.98396860A>T	GRCh38
NC_000002.11:g.99013323A>T , CM000664.1:g.99013323A>T	GRCh37
NC_000002.10:g.98379755A>T	NCBI36
NG_009097.1:g.55706A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.1690A>T MANE Select	ENSP00000272602.2:p.Arg564Trp
ENST00000272602.6:c.1690A>T	ENSP00000272602.2:p.Arg564Trp
ENST00000393504.5:c.1690A>T	ENSP00000377140.1:p.Arg564Trp
ENST00000409937.1:c.1702A>T	ENSP00000386761.1:p.Arg568Trp
ENST00000436404.6:c.1636A>T	ENSP00000410070.2:p.Arg546Trp
NM_001079878.1:c.1636A>T	NP_001073347.1:p.Arg546Trp
NM_001298.2:c.1690A>T	NP_001289.1:p.Arg564Trp
XM_006712243.2:c.1801A>T	XP_006712306.1:p.Arg601Trp
XM_011510554.1:c.1855A>T	XP_011508856.1:p.Arg619Trp
XM_011510554.2:c.1855A>T	XP_011508856.1:p.Arg619Trp
NM_001079878.2:c.1636A>T	NP_001073347.1:p.Arg546Trp
NM_001298.3:c.1690A>T MANE Select	NP_001289.1:p.Arg564Trp