Canonical Allele Identifier: CA427568404

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012416G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395953G>T , CM000664.2:g.98395953G>T	GRCh38
NC_000002.11:g.99012416G>T , CM000664.1:g.99012416G>T	GRCh37
NC_000002.10:g.98378848G>T	NCBI36
NG_009097.1:g.54799G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.783G>T MANE Select	ENSP00000272602.2:p.Leu261=
ENST00000272602.6:c.783G>T	ENSP00000272602.2:p.Leu261=
ENST00000393504.5:c.783G>T	ENSP00000377140.1:p.Leu261=
ENST00000409937.1:c.795G>T	ENSP00000386761.1:p.Leu265=
ENST00000436404.6:c.729G>T	ENSP00000410070.2:p.Leu243=
NM_001079878.1:c.729G>T	NP_001073347.1:p.Leu243=
NM_001298.2:c.783G>T	NP_001289.1:p.Leu261=
XM_006712243.2:c.894G>T	XP_006712306.1:p.Leu298=
XM_011510554.1:c.948G>T	XP_011508856.1:p.Leu316=
XM_011510554.2:c.948G>T	XP_011508856.1:p.Leu316=
NM_001079878.2:c.729G>T	NP_001073347.1:p.Leu243=
NM_001298.3:c.783G>T MANE Select	NP_001289.1:p.Leu261=