Canonical Allele Identifier: CA427568087

Gene: CNGA3

Linked Data

• gnomAD v4: 2-98395878-C-T
• MyVariant Identifiers: chr2:g.99012341C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395878C>T , CM000664.2:g.98395878C>T	GRCh38
NC_000002.11:g.99012341C>T , CM000664.1:g.99012341C>T	GRCh37
NC_000002.10:g.98378773C>T	NCBI36
NG_009097.1:g.54724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.708C>T MANE Select	ENSP00000272602.2:p.Thr236=
ENST00000272602.6:c.708C>T	ENSP00000272602.2:p.Thr236=
ENST00000393504.5:c.708C>T	ENSP00000377140.1:p.Thr236=
ENST00000409937.1:c.720C>T	ENSP00000386761.1:p.Thr240=
ENST00000436404.6:c.654C>T	ENSP00000410070.2:p.Thr218=
NM_001079878.1:c.654C>T	NP_001073347.1:p.Thr218=
NM_001298.2:c.708C>T	NP_001289.1:p.Thr236=
XM_006712243.2:c.819C>T	XP_006712306.1:p.Thr273=
XM_011510554.1:c.873C>T	XP_011508856.1:p.Thr291=
XM_011510554.2:c.873C>T	XP_011508856.1:p.Thr291=
NM_001079878.2:c.654C>T	NP_001073347.1:p.Thr218=
NM_001298.3:c.708C>T MANE Select	NP_001289.1:p.Thr236=