Canonical Allele Identifier: CA1794040

Gene: CNGA3

Linked Data

• dbSNP Id: rs777620322
• ExAC: 2:99013210 A / T
• gnomAD v3: 2-98396747-A-T
• gnomAD v4: 2-98396747-A-T
• MyVariant Identifiers: chr2:g.99013210A>T (hg19) ; chr2:g.98396747A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396747A>T , CM000664.2:g.98396747A>T	GRCh38
NC_000002.11:g.99013210A>T , CM000664.1:g.99013210A>T	GRCh37
NC_000002.10:g.98379642A>T	NCBI36
NG_009097.1:g.55593A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1577A>T MANE Select	ENSP00000272602.2:p.Lys526Met
ENST00000272602.6:c.1577A>T	ENSP00000272602.2:p.Lys526Met
ENST00000393504.5:c.1577A>T	ENSP00000377140.1:p.Lys526Met
ENST00000409937.1:c.1589A>T	ENSP00000386761.1:p.Lys530Met
ENST00000436404.6:c.1523A>T	ENSP00000410070.2:p.Lys508Met
NM_001079878.1:c.1523A>T	NP_001073347.1:p.Lys508Met
NM_001298.2:c.1577A>T	NP_001289.1:p.Lys526Met
XM_006712243.2:c.1688A>T	XP_006712306.1:p.Lys563Met
XM_011510554.1:c.1742A>T	XP_011508856.1:p.Lys581Met
XM_011510554.2:c.1742A>T	XP_011508856.1:p.Lys581Met
NM_001079878.2:c.1523A>T	NP_001073347.1:p.Lys508Met
NM_001298.3:c.1577A>T MANE Select	NP_001289.1:p.Lys526Met