Canonical Allele Identifier: CA5851227

Gene: CNGA4

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6239207A>G , CM000673.2:g.6239207A>G	GRCh38
NC_000011.9:g.6260437A>G , CM000673.1:g.6260437A>G	GRCh37
NC_000011.8:g.6217013A>G	NCBI36
NG_052832.1:g.505T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001037329.4:c.1A>G MANE Select	NP_001032406.1:p.Met1Val
ENST00000379936.3:c.1A>G MANE Select	ENSP00000369268.2:p.Met1Val
NM_001037329.3:c.1A>G	NP_001032406.1:p.Met1Val
ENST00000379936.2:c.1A>G	ENSP00000369268.2:p.Met1Val
ENST00000533426.5:c.-58-177A>G	ENSP00000433399.1:n.-58-177A>G
XM_006718145.2:c.-58-177A>G	XP_006718208.1:n.-58-177A>G
XM_011519899.1:c.-58-177A>G	XP_011518201.1:n.-58-177A>G
XM_017017217.1:c.1A>G	XP_016872706.1:p.Met1Val
XM_017017218.2:c.-58-177A>G	XP_016872707.1:n.-58-177A>G
XM_017017219.1:c.-58-177A>G	XP_016872708.1:n.-58-177A>G
XM_024448352.1:c.-321-177A>G	XP_024304120.1:n.-321-177A>G
XM_024448353.1:c.-58-177A>G	XP_024304121.1:n.-58-177A>G