Canonical Allele Identifier: CA35825691

Gene: CFHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196827110T>A , CM000663.2:g.196827110T>A	GRCh38
NC_000001.10:g.196796240T>A , CM000663.1:g.196796240T>A	GRCh37
NC_000001.9:g.195062863T>A	NCBI36
NG_013060.1:g.12380T>A , LRG_149:g.12380T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699454.1:c.268+105T>A	ENSP00000514391.1:n.268+105T>A
ENST00000699455.1:c.187+105T>A	ENSP00000514392.1:n.187+105T>A
ENST00000699456.1:n.519+105T>A
ENST00000320493.10:c.430+105T>A MANE Select	ENSP00000314299.5:n.430+105T>A
ENST00000320493.9:c.430+105T>A	ENSP00000314299.5:n.430+105T>A
ENST00000367421.4:c.58+7208T>A	ENSP00000356391.3:n.58+7208T>A
ENST00000367424.4:c.430+105T>A	ENSP00000356394.3:n.430+105T>A
ENST00000480960.1:n.625+105T>A
NM_002113.2:c.430+105T>A , LRG_149t1:c.430+105T>A	NP_002104.2:n.430+105T>A
XM_006711284.2:c.268+105T>A	XP_006711347.1:n.268+105T>A
XM_011509457.1:c.235+105T>A	XP_011507759.1:n.235+105T>A
XM_011509457.2:c.235+105T>A	XP_011507759.1:n.235+105T>A
NM_001379306.1:c.379+105T>A	NP_001366235.1:n.379+105T>A
NM_001379307.1:c.268+105T>A	NP_001366236.1:n.268+105T>A
NM_001379308.1:c.265+105T>A	NP_001366237.1:n.265+105T>A
NM_001379309.1:c.262+105T>A	NP_001366238.1:n.262+105T>A
NM_001379310.1:c.235+105T>A	NP_001366239.1:n.235+105T>A
NM_001379311.1:c.254-987T>A	NP_001366240.1:n.254-987T>A
NM_001379312.1:c.187+105T>A	NP_001366241.1:n.187+105T>A
NM_002113.3:c.430+105T>A MANE Select	NP_002104.2:n.430+105T>A