Canonical Allele Identifier: CA1306548
Gene: CFHR1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.196830535G>A
GRCh37 chr1:g.196799665G>A
Revel Score:
ENST00000367424 0.202
ENST00000320493 (MANE Select) 0.202
gnomAD v2:
1:196799665 G / A
gnomAD v3:
1:196830535 G / A
gnomAD v4:
chr1-196830535-G-A
Joint Max Group AF 0.00006802 (AFR)
Genomes Max Group AF 0.00001057 (AFR)
Exomes Max Group AF 0.00009717 (AFR)
ClinVar RCV:
RCV001330883
ClinVar Variation:
1029559
dbSNP:
781409951
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196830535G>A , CM000663.2:g.196830535G>A GRCh38
NC_000001.10:g.196799665G>A , CM000663.1:g.196799665G>A GRCh37
NC_000001.9:g.195066288G>A NCBI36
NG_013060.1:g.15805G>A , LRG_149:g.15805G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699454.1:c.481G>A ENSP00000514391.1:p.Asp161Asn
ENST00000699455.1:c.400G>A ENSP00000514392.1:p.Asp134Asn
ENST00000699456.1:n.732G>A
ENST00000320493.10:c.643G>A MANE Select ENSP00000314299.5:p.Asp215Asn
ENST00000320493.9:c.643G>A ENSP00000314299.5:p.Asp215Asn
ENST00000367421.4:c.58+10633G>A ENSP00000356391.3:n.58+10633G>A
ENST00000367424.4:c.466G>A ENSP00000356394.3:p.Asp156Asn
NM_002113.2:c.643G>A , LRG_149t1:c.643G>A NP_002104.2:p.Asp215Asn
XM_006711284.2:c.481G>A XP_006711347.1:p.Asp161Asn
XM_011509457.1:c.448G>A XP_011507759.1:p.Asp150Asn
XM_011509457.2:c.448G>A XP_011507759.1:p.Asp150Asn
NM_001379306.1:c.592G>A NP_001366235.1:p.Asp198Asn
NM_001379307.1:c.481G>A NP_001366236.1:p.Asp161Asn
NM_001379308.1:c.478G>A NP_001366237.1:p.Asp160Asn
NM_001379309.1:c.475G>A NP_001366238.1:p.Asp159Asn
NM_001379310.1:c.448G>A NP_001366239.1:p.Asp150Asn
NM_001379311.1:c.439G>A NP_001366240.1:p.Asp147Asn
NM_001379312.1:c.400G>A NP_001366241.1:p.Asp134Asn
NM_002113.3:c.643G>A MANE Select NP_002104.2:p.Asp215Asn
Search 100 bp 5'
Search 100 bp 3'