Canonical Allele Identifier: CA1306628

Gene: CFHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196831912G>T , CM000663.2:g.196831912G>T	GRCh38
NC_000001.10:g.196801042G>T , CM000663.1:g.196801042G>T	GRCh37
NC_000001.9:g.195067665G>T	NCBI36
NG_013060.1:g.17182G>T , LRG_149:g.17182G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002113.3:c.906G>T MANE Select	NP_002104.2:p.Arg302=
ENST00000320493.10:c.906G>T MANE Select	ENSP00000314299.5:p.Arg302=
NM_001379306.1:c.855G>T	NP_001366235.1:p.Arg285=
NM_001379307.1:c.744G>T	NP_001366236.1:p.Arg248=
NM_001379308.1:c.741G>T	NP_001366237.1:p.Arg247=
NM_001379309.1:c.738G>T	NP_001366238.1:p.Arg246=
NM_001379310.1:c.711G>T	NP_001366239.1:p.Arg237=
NM_001379311.1:c.702G>T	NP_001366240.1:p.Arg234=
NM_001379312.1:c.663G>T	NP_001366241.1:p.Arg221=
NM_002113.2:c.906G>T , LRG_149t1:c.906G>T	NP_002104.2:p.Arg302=
ENST00000320493.9:c.906G>T	ENSP00000314299.5:p.Arg302=
ENST00000367421.4:c.58+12010G>T	ENSP00000356391.3:n.58+12010G>T
ENST00000367424.4:c.729G>T	ENSP00000356394.3:p.Arg243=
ENST00000699454.1:c.744G>T	ENSP00000514391.1:p.Arg248=
ENST00000699455.1:c.663G>T	ENSP00000514392.1:p.Arg221=
ENST00000699456.1:n.966+29G>T
XM_006711284.2:c.744G>T	XP_006711347.1:p.Arg248=
XM_011509457.1:c.711G>T	XP_011507759.1:p.Arg237=
XM_011509457.2:c.711G>T	XP_011507759.1:p.Arg237=