Canonical Allele Identifier: CA379353473

Gene: CNGA4

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6244228C>G , CM000673.2:g.6244228C>G	GRCh38
NC_000011.9:g.6265458C>G , CM000673.1:g.6265458C>G	GRCh37
NC_000011.8:g.6222034C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379936.3:c.1547C>G MANE Select	ENSP00000369268.2:p.Ala516Gly
ENST00000379936.2:c.1547C>G	ENSP00000369268.2:p.Ala516Gly
NM_001037329.3:c.1547C>G	NP_001032406.1:p.Ala516Gly
XM_006718145.2:c.1427C>G	XP_006718208.1:p.Ala476Gly
XM_011519899.1:c.1427C>G	XP_011518201.1:p.Ala476Gly
XM_017017217.1:c.1553C>G	XP_016872706.1:p.Ala518Gly
XM_017017218.2:c.1433C>G	XP_016872707.1:p.Ala478Gly
XM_017017219.1:c.1433C>G	XP_016872708.1:p.Ala478Gly
XM_024448352.1:c.1439C>G	XP_024304120.1:p.Ala480Gly
XM_024448353.1:c.1427C>G	XP_024304121.1:p.Ala476Gly
NM_001037329.4:c.1547C>G MANE Select	NP_001032406.1:p.Ala516Gly