Canonical Allele Identifier: CA5851275

Gene: CNGA4

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6239478G>A , CM000673.2:g.6239478G>A	GRCh38
NC_000011.9:g.6260708G>A , CM000673.1:g.6260708G>A	GRCh37
NC_000011.8:g.6217284G>A	NCBI36
NG_052832.1:g.234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379936.3:c.157G>A MANE Select	ENSP00000369268.2:p.Val53Met
ENST00000379936.2:c.157G>A	ENSP00000369268.2:p.Val53Met
ENST00000533426.5:c.37G>A	ENSP00000433399.1:p.Val13Met
NM_001037329.3:c.157G>A	NP_001032406.1:p.Val53Met
XM_006718145.2:c.37G>A	XP_006718208.1:p.Val13Met
XM_011519899.1:c.37G>A	XP_011518201.1:p.Val13Met
XM_017017217.1:c.157G>A	XP_016872706.1:p.Val53Met
XM_017017218.2:c.37G>A	XP_016872707.1:p.Val13Met
XM_017017219.1:c.37G>A	XP_016872708.1:p.Val13Met
XM_024448352.1:c.-227G>A	XP_024304120.1:n.-227G>A
XM_024448353.1:c.37G>A	XP_024304121.1:p.Val13Met
NM_001037329.4:c.157G>A MANE Select	NP_001032406.1:p.Val53Met