Canonical Allele Identifier: CA343987478
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs1405829658

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747170G>C , CM000663.2:g.196747170G>C GRCh38
NC_000001.10:g.196716300G>C , CM000663.1:g.196716300G>C GRCh37
NC_000001.9:g.194982923G>C NCBI36
NG_007259.1:g.100160G>C , LRG_47:g.100160G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4581G>C
ENST00000695970.1:c.3379G>C ENSP00000512297.1:p.Ala1127Pro
ENST00000695971.1:c.3532G>C ENSP00000512298.1:p.Ala1178Pro
ENST00000695972.1:c.*630G>C ENSP00000512299.1:n.*630G>C
ENST00000695973.1:c.*1917G>C ENSP00000512300.1:n.*1917G>C
ENST00000695974.1:c.3376G>C ENSP00000512301.1:p.Ala1126Pro
ENST00000695975.1:c.*1680G>C ENSP00000512302.1:n.*1680G>C
ENST00000695976.1:c.3364G>C ENSP00000512303.1:p.Ala1122Pro
ENST00000695981.1:c.3553G>C ENSP00000512306.1:p.Ala1185Pro
ENST00000695984.1:c.1561G>C ENSP00000512309.1:p.Ala521Pro
ENST00000695986.1:c.*3204G>C ENSP00000512311.1:n.*3204G>C
ENST00000695990.1:n.587G>C
ENST00000696026.1:c.*1835G>C ENSP00000512335.1:n.*1835G>C
ENST00000696027.1:c.3547G>C ENSP00000512336.1:p.Ala1183Pro
ENST00000696028.1:c.3481G>C ENSP00000512337.1:p.Ala1161Pro
ENST00000696029.1:c.3547G>C ENSP00000512338.1:p.Ala1183Pro
ENST00000696031.1:c.*3071G>C ENSP00000512340.1:n.*3071G>C
ENST00000696032.1:c.3553G>C ENSP00000512341.1:p.Ala1185Pro
ENST00000696033.1:c.1160-32627G>C ENSP00000512342.1:n.1160-32627G>C
ENST00000367429.9:c.3553G>C MANE Select ENSP00000356399.4:p.Ala1185Pro
ENST00000367429.8:c.3553G>C ENSP00000356399.4:p.Ala1185Pro
ENST00000466229.5:n.6651G>C
NM_000186.3:c.3553G>C , LRG_47t1:c.3553G>C NP_000177.2:p.Ala1185Pro
XR_001737134.2:n.3739G>C
NM_000186.4:c.3553G>C MANE Select NP_000177.2:p.Ala1185Pro