Canonical Allele Identifier: CA1306510

Gene: CFHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196828162G>C , CM000663.2:g.196828162G>C	GRCh38
NC_000001.10:g.196797292G>C , CM000663.1:g.196797292G>C	GRCh37
NC_000001.9:g.195063915G>C	NCBI36
NG_013060.1:g.13432G>C , LRG_149:g.13432G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002113.3:c.523G>C MANE Select	NP_002104.2:p.Glu175Gln
ENST00000320493.10:c.523G>C MANE Select	ENSP00000314299.5:p.Glu175Gln
NM_001379306.1:c.472G>C	NP_001366235.1:p.Glu158Gln
NM_001379307.1:c.361G>C	NP_001366236.1:p.Glu121Gln
NM_001379308.1:c.358G>C	NP_001366237.1:p.Glu120Gln
NM_001379309.1:c.355G>C	NP_001366238.1:p.Glu119Gln
NM_001379310.1:c.328G>C	NP_001366239.1:p.Glu110Gln
NM_001379311.1:c.319G>C	NP_001366240.1:p.Glu107Gln
NM_001379312.1:c.280G>C	NP_001366241.1:p.Glu94Gln
NM_002113.2:c.523G>C , LRG_149t1:c.523G>C	NP_002104.2:p.Glu175Gln
ENST00000320493.9:c.523G>C	ENSP00000314299.5:p.Glu175Gln
ENST00000367421.4:c.58+8260G>C	ENSP00000356391.3:n.58+8260G>C
ENST00000367424.4:c.430+1157G>C	ENSP00000356394.3:n.430+1157G>C
ENST00000480960.1:n.718G>C
ENST00000699454.1:c.361G>C	ENSP00000514391.1:p.Glu121Gln
ENST00000699455.1:c.280G>C	ENSP00000514392.1:p.Glu94Gln
ENST00000699456.1:n.612G>C
XM_006711284.2:c.361G>C	XP_006711347.1:p.Glu121Gln
XM_011509457.1:c.328G>C	XP_011507759.1:p.Glu110Gln
XM_011509457.2:c.328G>C	XP_011507759.1:p.Glu110Gln