Canonical Allele Identifier: CA427567108

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99006226G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389763G>T , CM000664.2:g.98389763G>T	GRCh38
NC_000002.11:g.99006226G>T , CM000664.1:g.99006226G>T	GRCh37
NC_000002.10:g.98372658G>T	NCBI36
NG_009097.1:g.48609G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.555G>T MANE Select	ENSP00000272602.2:p.Leu185=
ENST00000272602.6:c.555G>T	ENSP00000272602.2:p.Leu185=
ENST00000393503.2:n.560G>T
ENST00000393504.5:c.555G>T	ENSP00000377140.1:p.Leu185=
ENST00000409937.1:c.567G>T	ENSP00000386761.1:p.Leu189=
ENST00000436404.6:c.501G>T	ENSP00000410070.2:p.Leu167=
NM_001079878.1:c.501G>T	NP_001073347.1:p.Leu167=
NM_001298.2:c.555G>T	NP_001289.1:p.Leu185=
XM_006712243.2:c.666G>T	XP_006712306.1:p.Leu222=
XM_011510554.1:c.720G>T	XP_011508856.1:p.Leu240=
XM_011510554.2:c.720G>T	XP_011508856.1:p.Leu240=
NM_001079878.2:c.501G>T	NP_001073347.1:p.Leu167=
NM_001298.3:c.555G>T MANE Select	NP_001289.1:p.Leu185=