Canonical Allele Identifier: CA1794053
Gene: CNGA3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.98396788G>A
GRCh37 chr2:g.99013251G>A
Revel Score:
ENST00000393504 0.421
ENST00000436404 0.421
ENST00000272602 (MANE Select) 0.421
ENST00000409937 0.421
gnomAD v2:
2:99013251 G / A
gnomAD v3:
2:98396788 G / A
gnomAD v4:
chr2-98396788-G-A
Joint Max Group AF 0.00192367 (NFE)
Genomes Max Group AF 0.00180664 (NFE)
Exomes Max Group AF 0.00191647 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396788G>A , CM000664.2:g.98396788G>A GRCh38
NC_000002.11:g.99013251G>A , CM000664.1:g.99013251G>A GRCh37
NC_000002.10:g.98379683G>A NCBI36
NG_009097.1:g.55634G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272602.7:c.1618G>A MANE Select ENSP00000272602.2:p.Val540Ile
ENST00000272602.6:c.1618G>A ENSP00000272602.2:p.Val540Ile
ENST00000393504.5:c.1618G>A ENSP00000377140.1:p.Val540Ile
ENST00000409937.1:c.1630G>A ENSP00000386761.1:p.Val544Ile
ENST00000436404.6:c.1564G>A ENSP00000410070.2:p.Val522Ile
NM_001079878.1:c.1564G>A NP_001073347.1:p.Val522Ile
NM_001298.2:c.1618G>A NP_001289.1:p.Val540Ile
XM_006712243.2:c.1729G>A XP_006712306.1:p.Val577Ile
XM_011510554.1:c.1783G>A XP_011508856.1:p.Val595Ile
XM_011510554.2:c.1783G>A XP_011508856.1:p.Val595Ile
NM_001079878.2:c.1564G>A NP_001073347.1:p.Val522Ile
NM_001298.3:c.1618G>A MANE Select NP_001289.1:p.Val540Ile
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