Canonical Allele Identifier: CA1306565

Gene: CFHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196830616C>G , CM000663.2:g.196830616C>G	GRCh38
NC_000001.10:g.196799746C>G , CM000663.1:g.196799746C>G	GRCh37
NC_000001.9:g.195066369C>G	NCBI36
NG_013060.1:g.15886C>G , LRG_149:g.15886C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002113.3:c.724C>G MANE Select	NP_002104.2:p.Gln242Glu
ENST00000320493.10:c.724C>G MANE Select	ENSP00000314299.5:p.Gln242Glu
NM_001379306.1:c.673C>G	NP_001366235.1:p.Gln225Glu
NM_001379307.1:c.562C>G	NP_001366236.1:p.Gln188Glu
NM_001379308.1:c.559C>G	NP_001366237.1:p.Gln187Glu
NM_001379309.1:c.556C>G	NP_001366238.1:p.Gln186Glu
NM_001379310.1:c.529C>G	NP_001366239.1:p.Gln177Glu
NM_001379311.1:c.520C>G	NP_001366240.1:p.Gln174Glu
NM_001379312.1:c.481C>G	NP_001366241.1:p.Gln161Glu
NM_002113.2:c.724C>G , LRG_149t1:c.724C>G	NP_002104.2:p.Gln242Glu
ENST00000320493.9:c.724C>G	ENSP00000314299.5:p.Gln242Glu
ENST00000367421.4:c.58+10714C>G	ENSP00000356391.3:n.58+10714C>G
ENST00000367424.4:c.547C>G	ENSP00000356394.3:p.Gln183Glu
ENST00000699454.1:c.562C>G	ENSP00000514391.1:p.Gln188Glu
ENST00000699455.1:c.481C>G	ENSP00000514392.1:p.Gln161Glu
ENST00000699456.1:n.813C>G
XM_006711284.2:c.562C>G	XP_006711347.1:p.Gln188Glu
XM_011509457.1:c.529C>G	XP_011507759.1:p.Gln177Glu
XM_011509457.2:c.529C>G	XP_011507759.1:p.Gln177Glu