Canonical Allele Identifier: CA347832071

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012382A>T (hg19) ; chr2:g.98395919A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395919A>T , CM000664.2:g.98395919A>T	GRCh38
NC_000002.11:g.99012382A>T , CM000664.1:g.99012382A>T	GRCh37
NC_000002.10:g.98378814A>T	NCBI36
NG_009097.1:g.54765A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.749A>T MANE Select	ENSP00000272602.2:p.Lys250Met
ENST00000272602.6:c.749A>T	ENSP00000272602.2:p.Lys250Met
ENST00000393504.5:c.749A>T	ENSP00000377140.1:p.Lys250Met
ENST00000409937.1:c.761A>T	ENSP00000386761.1:p.Lys254Met
ENST00000436404.6:c.695A>T	ENSP00000410070.2:p.Lys232Met
NM_001079878.1:c.695A>T	NP_001073347.1:p.Lys232Met
NM_001298.2:c.749A>T	NP_001289.1:p.Lys250Met
XM_006712243.2:c.860A>T	XP_006712306.1:p.Lys287Met
XM_011510554.1:c.914A>T	XP_011508856.1:p.Lys305Met
XM_011510554.2:c.914A>T	XP_011508856.1:p.Lys305Met
NM_001079878.2:c.695A>T	NP_001073347.1:p.Lys232Met
NM_001298.3:c.749A>T MANE Select	NP_001289.1:p.Lys250Met