Canonical Allele Identifier: CA5851427

Gene: CNGA4

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6240535G>C , CM000673.2:g.6240535G>C	GRCh38
NC_000011.9:g.6261765G>C , CM000673.1:g.6261765G>C	GRCh37
NC_000011.8:g.6218341G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379936.3:c.741G>C MANE Select	ENSP00000369268.2:p.Met247Ile
ENST00000379936.2:c.741G>C	ENSP00000369268.2:p.Met247Ile
ENST00000533426.5:c.152-104G>C	ENSP00000433399.1:n.152-104G>C
NM_001037329.3:c.741G>C	NP_001032406.1:p.Met247Ile
XM_006718145.2:c.621G>C	XP_006718208.1:p.Met207Ile
XM_011519899.1:c.621G>C	XP_011518201.1:p.Met207Ile
XM_017017217.1:c.741G>C	XP_016872706.1:p.Met247Ile
XM_017017218.2:c.621G>C	XP_016872707.1:p.Met207Ile
XM_017017219.1:c.621G>C	XP_016872708.1:p.Met207Ile
XM_024448352.1:c.633G>C	XP_024304120.1:p.Met211Ile
XM_024448353.1:c.621G>C	XP_024304121.1:p.Met207Ile
NM_001037329.4:c.741G>C MANE Select	NP_001032406.1:p.Met247Ile