Canonical Allele Identifier: CA5851448

Gene: CNGA4

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6240681A>G , CM000673.2:g.6240681A>G	GRCh38
NC_000011.9:g.6261911A>G , CM000673.1:g.6261911A>G	GRCh37
NC_000011.8:g.6218487A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001037329.4:c.887A>G MANE Select	NP_001032406.1:p.Asn296Ser
ENST00000379936.3:c.887A>G MANE Select	ENSP00000369268.2:p.Asn296Ser
NM_001037329.3:c.887A>G	NP_001032406.1:p.Asn296Ser
ENST00000379936.2:c.887A>G	ENSP00000369268.2:p.Asn296Ser
ENST00000533426.5:c.194A>G	ENSP00000433399.1:p.Asn65Ser
XM_006718145.2:c.767A>G	XP_006718208.1:p.Asn256Ser
XM_011519899.1:c.767A>G	XP_011518201.1:p.Asn256Ser
XM_017017217.1:c.887A>G	XP_016872706.1:p.Asn296Ser
XM_017017218.2:c.767A>G	XP_016872707.1:p.Asn256Ser
XM_017017219.1:c.767A>G	XP_016872708.1:p.Asn256Ser
XM_024448352.1:c.779A>G	XP_024304120.1:p.Asn260Ser
XM_024448353.1:c.767A>G	XP_024304121.1:p.Asn256Ser