Canonical Allele Identifier: CA343988117

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716373C>A (hg19) ; chr1:g.196747243C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747243C>A , CM000663.2:g.196747243C>A	GRCh38
NC_000001.10:g.196716373C>A , CM000663.1:g.196716373C>A	GRCh37
NC_000001.9:g.194982996C>A	NCBI36
NG_007259.1:g.100233C>A , LRG_47:g.100233C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4654C>A
ENST00000695970.1:c.3452C>A	ENSP00000512297.1:p.Ser1151Ter
ENST00000695971.1:c.3605C>A	ENSP00000512298.1:p.Ser1202Ter
ENST00000695972.1:c.*703C>A	ENSP00000512299.1:n.*703C>A
ENST00000695973.1:c.*1990C>A	ENSP00000512300.1:n.*1990C>A
ENST00000695974.1:c.3449C>A	ENSP00000512301.1:p.Ser1150Ter
ENST00000695975.1:c.*1753C>A	ENSP00000512302.1:n.*1753C>A
ENST00000695976.1:c.3437C>A	ENSP00000512303.1:p.Ser1146Ter
ENST00000695981.1:c.3580+46C>A	ENSP00000512306.1:n.3580+46C>A
ENST00000695984.1:c.1634C>A	ENSP00000512309.1:p.Ser545Ter
ENST00000695986.1:c.*3277C>A	ENSP00000512311.1:n.*3277C>A
ENST00000695990.1:n.660C>A
ENST00000696026.1:c.*1908C>A	ENSP00000512335.1:n.*1908C>A
ENST00000696027.1:c.3620C>A	ENSP00000512336.1:p.Ser1207Ter
ENST00000696028.1:c.3554C>A	ENSP00000512337.1:p.Ser1185Ter
ENST00000696029.1:c.3620C>A	ENSP00000512338.1:p.Ser1207Ter
ENST00000696031.1:c.*3144C>A	ENSP00000512340.1:n.*3144C>A
ENST00000696032.1:c.3580+46C>A	ENSP00000512341.1:n.3580+46C>A
ENST00000696033.1:c.1160-32554C>A	ENSP00000512342.1:n.1160-32554C>A
ENST00000367429.9:c.3626C>A MANE Select	ENSP00000356399.4:p.Ser1209Ter
ENST00000367429.8:c.3626C>A	ENSP00000356399.4:p.Ser1209Ter
ENST00000466229.5:n.6724C>A
NM_000186.3:c.3626C>A , LRG_47t1:c.3626C>A	NP_000177.2:p.Ser1209Ter
XR_001737134.2:n.3812C>A
NM_000186.4:c.3626C>A MANE Select	NP_000177.2:p.Ser1209Ter