Canonical Allele Identifier: CA343987550

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716307A>C (hg19) ; chr1:g.196747177A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747177A>C , CM000663.2:g.196747177A>C	GRCh38
NC_000001.10:g.196716307A>C , CM000663.1:g.196716307A>C	GRCh37
NC_000001.9:g.194982930A>C	NCBI36
NG_007259.1:g.100167A>C , LRG_47:g.100167A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4588A>C
ENST00000695970.1:c.3386A>C	ENSP00000512297.1:p.Gln1129Pro
ENST00000695971.1:c.3539A>C	ENSP00000512298.1:p.Gln1180Pro
ENST00000695972.1:c.*637A>C	ENSP00000512299.1:n.*637A>C
ENST00000695973.1:c.*1924A>C	ENSP00000512300.1:n.*1924A>C
ENST00000695974.1:c.3383A>C	ENSP00000512301.1:p.Gln1128Pro
ENST00000695975.1:c.*1687A>C	ENSP00000512302.1:n.*1687A>C
ENST00000695976.1:c.3371A>C	ENSP00000512303.1:p.Gln1124Pro
ENST00000695981.1:c.3560A>C	ENSP00000512306.1:p.Gln1187Pro
ENST00000695984.1:c.1568A>C	ENSP00000512309.1:p.Gln523Pro
ENST00000695986.1:c.*3211A>C	ENSP00000512311.1:n.*3211A>C
ENST00000695990.1:n.594A>C
ENST00000696026.1:c.*1842A>C	ENSP00000512335.1:n.*1842A>C
ENST00000696027.1:c.3554A>C	ENSP00000512336.1:p.Gln1185Pro
ENST00000696028.1:c.3488A>C	ENSP00000512337.1:p.Gln1163Pro
ENST00000696029.1:c.3554A>C	ENSP00000512338.1:p.Gln1185Pro
ENST00000696031.1:c.*3078A>C	ENSP00000512340.1:n.*3078A>C
ENST00000696032.1:c.3560A>C	ENSP00000512341.1:p.Gln1187Pro
ENST00000696033.1:c.1160-32620A>C	ENSP00000512342.1:n.1160-32620A>C
ENST00000367429.9:c.3560A>C MANE Select	ENSP00000356399.4:p.Gln1187Pro
ENST00000367429.8:c.3560A>C	ENSP00000356399.4:p.Gln1187Pro
ENST00000466229.5:n.6658A>C
NM_000186.3:c.3560A>C , LRG_47t1:c.3560A>C	NP_000177.2:p.Gln1187Pro
XR_001737134.2:n.3746A>C
NM_000186.4:c.3560A>C MANE Select	NP_000177.2:p.Gln1187Pro