Canonical Allele Identifier: CA343987474

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716300G>A (hg19) ; chr1:g.196747170G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4581G>A
ENST00000695970.1:c.3379G>A	ENSP00000512297.1:p.Ala1127Thr
ENST00000695971.1:c.3532G>A	ENSP00000512298.1:p.Ala1178Thr
ENST00000695972.1:c.*630G>A	ENSP00000512299.1:n.*630G>A
ENST00000695973.1:c.*1917G>A	ENSP00000512300.1:n.*1917G>A
ENST00000695974.1:c.3376G>A	ENSP00000512301.1:p.Ala1126Thr
ENST00000695975.1:c.*1680G>A	ENSP00000512302.1:n.*1680G>A
ENST00000695976.1:c.3364G>A	ENSP00000512303.1:p.Ala1122Thr
ENST00000695981.1:c.3553G>A	ENSP00000512306.1:p.Ala1185Thr
ENST00000695984.1:c.1561G>A	ENSP00000512309.1:p.Ala521Thr
ENST00000695986.1:c.*3204G>A	ENSP00000512311.1:n.*3204G>A
ENST00000695990.1:n.587G>A
ENST00000696026.1:c.*1835G>A	ENSP00000512335.1:n.*1835G>A
ENST00000696027.1:c.3547G>A	ENSP00000512336.1:p.Ala1183Thr
ENST00000696028.1:c.3481G>A	ENSP00000512337.1:p.Ala1161Thr
ENST00000696029.1:c.3547G>A	ENSP00000512338.1:p.Ala1183Thr
ENST00000696031.1:c.*3071G>A	ENSP00000512340.1:n.*3071G>A
ENST00000696032.1:c.3553G>A	ENSP00000512341.1:p.Ala1185Thr
ENST00000696033.1:c.1160-32627G>A	ENSP00000512342.1:n.1160-32627G>A
ENST00000367429.9:c.3553G>A MANE Select	ENSP00000356399.4:p.Ala1185Thr
ENST00000367429.8:c.3553G>A	ENSP00000356399.4:p.Ala1185Thr
ENST00000466229.5:n.6651G>A
NM_000186.3:c.3553G>A , LRG_47t1:c.3553G>A	NP_000177.2:p.Ala1185Thr
XR_001737134.2:n.3739G>A
NM_000186.4:c.3553G>A MANE Select	NP_000177.2:p.Ala1185Thr