Canonical Allele Identifier: CA347831616

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99006219G>T (hg19) ; chr2:g.98389756G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389756G>T , CM000664.2:g.98389756G>T	GRCh38
NC_000002.11:g.99006219G>T , CM000664.1:g.99006219G>T	GRCh37
NC_000002.10:g.98372651G>T	NCBI36
NG_009097.1:g.48602G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.548G>T MANE Select	ENSP00000272602.2:p.Trp183Leu
ENST00000272602.6:c.548G>T	ENSP00000272602.2:p.Trp183Leu
ENST00000393503.2:n.553G>T
ENST00000393504.5:c.548G>T	ENSP00000377140.1:p.Trp183Leu
ENST00000409937.1:c.560G>T	ENSP00000386761.1:p.Trp187Leu
ENST00000436404.6:c.494G>T	ENSP00000410070.2:p.Trp165Leu
NM_001079878.1:c.494G>T	NP_001073347.1:p.Trp165Leu
NM_001298.2:c.548G>T	NP_001289.1:p.Trp183Leu
XM_006712243.2:c.659G>T	XP_006712306.1:p.Trp220Leu
XM_011510554.1:c.713G>T	XP_011508856.1:p.Trp238Leu
XM_011510554.2:c.713G>T	XP_011508856.1:p.Trp238Leu
NM_001079878.2:c.494G>T	NP_001073347.1:p.Trp165Leu
NM_001298.3:c.548G>T MANE Select	NP_001289.1:p.Trp183Leu