Canonical Allele Identifier: CA10747880

Gene: CFHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196826631C>G , CM000663.2:g.196826631C>G	GRCh38
NC_000001.10:g.196795761C>G , CM000663.1:g.196795761C>G	GRCh37
NC_000001.9:g.195062384C>G	NCBI36
NG_013060.1:g.11901C>G , LRG_149:g.11901C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002113.3:c.254-198C>G MANE Select	NP_002104.2:n.254-198C>G
ENST00000320493.10:c.254-198C>G MANE Select	ENSP00000314299.5:n.254-198C>G
NM_001379306.1:c.203-198C>G	NP_001366235.1:n.203-198C>G
NM_001379307.1:c.92-198C>G	NP_001366236.1:n.92-198C>G
NM_001379308.1:c.89-198C>G	NP_001366237.1:n.89-198C>G
NM_001379309.1:c.86-198C>G	NP_001366238.1:n.86-198C>G
NM_001379310.1:c.59-198C>G	NP_001366239.1:n.59-198C>G
NM_001379311.1:c.253+960C>G	NP_001366240.1:n.253+960C>G
NM_001379312.1:c.59-246C>G	NP_001366241.1:n.59-246C>G
NM_002113.2:c.254-198C>G , LRG_149t1:c.254-198C>G	NP_002104.2:n.254-198C>G
ENST00000320493.9:c.254-198C>G	ENSP00000314299.5:n.254-198C>G
ENST00000367421.4:c.58+6729C>G	ENSP00000356391.3:n.58+6729C>G
ENST00000367424.4:c.254-198C>G	ENSP00000356394.3:n.254-198C>G
ENST00000480960.1:n.449-198C>G
ENST00000699454.1:c.92-198C>G	ENSP00000514391.1:n.92-198C>G
ENST00000699455.1:c.59-246C>G	ENSP00000514392.1:n.59-246C>G
ENST00000699456.1:n.343-198C>G
XM_006711284.2:c.92-198C>G	XP_006711347.1:n.92-198C>G
XM_011509457.1:c.59-198C>G	XP_011507759.1:n.59-198C>G
XM_011509457.2:c.59-198C>G	XP_011507759.1:n.59-198C>G