Canonical Allele Identifier: CA10911817

Gene: CFHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196827993C>T , CM000663.2:g.196827993C>T	GRCh38
NC_000001.10:g.196797123C>T , CM000663.1:g.196797123C>T	GRCh37
NC_000001.9:g.195063746C>T	NCBI36
NG_013060.1:g.13263C>T , LRG_149:g.13263C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002113.3:c.431-77C>T MANE Select	NP_002104.2:n.431-77C>T
ENST00000320493.10:c.431-77C>T MANE Select	ENSP00000314299.5:n.431-77C>T
NM_001379306.1:c.380-77C>T	NP_001366235.1:n.380-77C>T
NM_001379307.1:c.269-77C>T	NP_001366236.1:n.269-77C>T
NM_001379308.1:c.266-77C>T	NP_001366237.1:n.266-77C>T
NM_001379309.1:c.263-77C>T	NP_001366238.1:n.263-77C>T
NM_001379310.1:c.236-77C>T	NP_001366239.1:n.236-77C>T
NM_001379311.1:c.254-104C>T	NP_001366240.1:n.254-104C>T
NM_001379312.1:c.188-77C>T	NP_001366241.1:n.188-77C>T
NM_002113.2:c.431-77C>T , LRG_149t1:c.431-77C>T	NP_002104.2:n.431-77C>T
ENST00000320493.9:c.431-77C>T	ENSP00000314299.5:n.431-77C>T
ENST00000367421.4:c.58+8091C>T	ENSP00000356391.3:n.58+8091C>T
ENST00000367424.4:c.430+988C>T	ENSP00000356394.3:n.430+988C>T
ENST00000480960.1:n.626-77C>T
ENST00000699454.1:c.269-77C>T	ENSP00000514391.1:n.269-77C>T
ENST00000699455.1:c.188-77C>T	ENSP00000514392.1:n.188-77C>T
ENST00000699456.1:n.520-77C>T
XM_006711284.2:c.269-77C>T	XP_006711347.1:n.269-77C>T
XM_011509457.1:c.236-77C>T	XP_011507759.1:n.236-77C>T
XM_011509457.2:c.236-77C>T	XP_011507759.1:n.236-77C>T