Canonical Allele Identifier: CA5851649

Gene: CNGA4

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6244245G>A , CM000673.2:g.6244245G>A	GRCh38
NC_000011.9:g.6265475G>A , CM000673.1:g.6265475G>A	GRCh37
NC_000011.8:g.6222051G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379936.3:c.1564G>A MANE Select	ENSP00000369268.2:p.Ala522Thr
ENST00000379936.2:c.1564G>A	ENSP00000369268.2:p.Ala522Thr
NM_001037329.3:c.1564G>A	NP_001032406.1:p.Ala522Thr
XM_006718145.2:c.1444G>A	XP_006718208.1:p.Ala482Thr
XM_011519899.1:c.1444G>A	XP_011518201.1:p.Ala482Thr
XM_017017217.1:c.1570G>A	XP_016872706.1:p.Ala524Thr
XM_017017218.2:c.1450G>A	XP_016872707.1:p.Ala484Thr
XM_017017219.1:c.1450G>A	XP_016872708.1:p.Ala484Thr
XM_024448352.1:c.1456G>A	XP_024304120.1:p.Ala486Thr
XM_024448353.1:c.1444G>A	XP_024304121.1:p.Ala482Thr
NM_001037329.4:c.1564G>A MANE Select	NP_001032406.1:p.Ala522Thr