Canonical Allele Identifier: CA379349156

Gene: CNGA4

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6239785A>G , CM000673.2:g.6239785A>G	GRCh38
NC_000011.9:g.6261015A>G , CM000673.1:g.6261015A>G	GRCh37
NC_000011.8:g.6217591A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379936.3:c.266A>G MANE Select	ENSP00000369268.2:p.His89Arg
ENST00000379936.2:c.266A>G	ENSP00000369268.2:p.His89Arg
ENST00000533426.5:c.146A>G	ENSP00000433399.1:p.His49Arg
NM_001037329.3:c.266A>G	NP_001032406.1:p.His89Arg
XM_006718145.2:c.146A>G	XP_006718208.1:p.His49Arg
XM_011519899.1:c.146A>G	XP_011518201.1:p.His49Arg
XM_017017217.1:c.266A>G	XP_016872706.1:p.His89Arg
XM_017017218.2:c.146A>G	XP_016872707.1:p.His49Arg
XM_017017219.1:c.146A>G	XP_016872708.1:p.His49Arg
XM_024448352.1:c.-118A>G	XP_024304120.1:n.-118A>G
XM_024448353.1:c.146A>G	XP_024304121.1:p.His49Arg
NM_001037329.4:c.266A>G MANE Select	NP_001032406.1:p.His89Arg