Canonical Allele Identifier: CA347832117

Gene: CNGA3

Linked Data

• dbSNP Id: rs1477725731
• gnomAD v2: 2-99012405-C-T
• MyVariant Identifiers: chr2:g.99012405C>T (hg19) ; chr2:g.98395942C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395942C>T , CM000664.2:g.98395942C>T	GRCh38
NC_000002.11:g.99012405C>T , CM000664.1:g.99012405C>T	GRCh37
NC_000002.10:g.98378837C>T	NCBI36
NG_009097.1:g.54788C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.772C>T MANE Select	ENSP00000272602.2:p.Pro258Ser
ENST00000272602.6:c.772C>T	ENSP00000272602.2:p.Pro258Ser
ENST00000393504.5:c.772C>T	ENSP00000377140.1:p.Pro258Ser
ENST00000409937.1:c.784C>T	ENSP00000386761.1:p.Pro262Ser
ENST00000436404.6:c.718C>T	ENSP00000410070.2:p.Pro240Ser
NM_001079878.1:c.718C>T	NP_001073347.1:p.Pro240Ser
NM_001298.2:c.772C>T	NP_001289.1:p.Pro258Ser
XM_006712243.2:c.883C>T	XP_006712306.1:p.Pro295Ser
XM_011510554.1:c.937C>T	XP_011508856.1:p.Pro313Ser
XM_011510554.2:c.937C>T	XP_011508856.1:p.Pro313Ser
NM_001079878.2:c.718C>T	NP_001073347.1:p.Pro240Ser
NM_001298.3:c.772C>T MANE Select	NP_001289.1:p.Pro258Ser