Canonical Allele Identifier: CA343989401

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716423C>A (hg19) ; chr1:g.196747293C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747293C>A , CM000663.2:g.196747293C>A	GRCh38
NC_000001.10:g.196716423C>A , CM000663.1:g.196716423C>A	GRCh37
NC_000001.9:g.194983046C>A	NCBI36
NG_007259.1:g.100283C>A , LRG_47:g.100283C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4704C>A
ENST00000695970.1:c.3502C>A	ENSP00000512297.1:p.Pro1168Thr
ENST00000695971.1:c.3655C>A	ENSP00000512298.1:p.Pro1219Thr
ENST00000695972.1:c.*753C>A	ENSP00000512299.1:n.*753C>A
ENST00000695973.1:c.*2040C>A	ENSP00000512300.1:n.*2040C>A
ENST00000695974.1:c.3499C>A	ENSP00000512301.1:p.Pro1167Thr
ENST00000695975.1:c.*1803C>A	ENSP00000512302.1:n.*1803C>A
ENST00000695976.1:c.3487C>A	ENSP00000512303.1:p.Pro1163Thr
ENST00000695981.1:c.3580+96C>A	ENSP00000512306.1:n.3580+96C>A
ENST00000695984.1:c.1684C>A	ENSP00000512309.1:p.Pro562Thr
ENST00000695986.1:c.*3327C>A	ENSP00000512311.1:n.*3327C>A
ENST00000695990.1:n.710C>A
ENST00000696026.1:c.*1958C>A	ENSP00000512335.1:n.*1958C>A
ENST00000696027.1:c.3670C>A	ENSP00000512336.1:p.Pro1224Thr
ENST00000696028.1:c.3604C>A	ENSP00000512337.1:p.Pro1202Thr
ENST00000696029.1:c.3670C>A	ENSP00000512338.1:p.Pro1224Thr
ENST00000696031.1:c.*3194C>A	ENSP00000512340.1:n.*3194C>A
ENST00000696032.1:c.3580+96C>A	ENSP00000512341.1:n.3580+96C>A
ENST00000696033.1:c.1160-32504C>A	ENSP00000512342.1:n.1160-32504C>A
ENST00000367429.9:c.3676C>A MANE Select	ENSP00000356399.4:p.Pro1226Thr
ENST00000367429.8:c.3676C>A	ENSP00000356399.4:p.Pro1226Thr
ENST00000466229.5:n.6774C>A
NM_000186.3:c.3676C>A , LRG_47t1:c.3676C>A	NP_000177.2:p.Pro1226Thr
XR_001737134.2:n.3862C>A
NM_000186.4:c.3676C>A MANE Select	NP_000177.2:p.Pro1226Thr