Canonical Allele Identifier: CA343977302

Gene: CFH

Linked Data

• dbSNP Id: rs1667504275
• gnomAD v3: 1-196677626-C-T
• gnomAD v4: 1-196677626-C-T
• MyVariant Identifiers: chr1:g.196646756C>T (hg19) ; chr1:g.196677626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196677626C>T , CM000663.2:g.196677626C>T	GRCh38
NC_000001.10:g.196646756C>T , CM000663.1:g.196646756C>T	GRCh37
NC_000001.9:g.194913379C>T	NCBI36
NG_007259.1:g.30616C>T , LRG_47:g.30616C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359637.3:c.427+1561C>T	ENSP00000352658.2:n.427+1561C>T
ENST00000470918.2:n.844C>T
ENST00000695968.1:c.395C>T	ENSP00000512295.1:p.Ser132Leu
ENST00000695969.1:c.578C>T	ENSP00000512296.1:p.Ser193Leu
ENST00000695970.1:c.578C>T	ENSP00000512297.1:p.Ser193Leu
ENST00000695971.1:c.578C>T	ENSP00000512298.1:p.Ser193Leu
ENST00000695972.1:c.578C>T	ENSP00000512299.1:p.Ser193Leu
ENST00000695973.1:c.578C>T	ENSP00000512300.1:p.Ser193Leu
ENST00000695974.1:c.578C>T	ENSP00000512301.1:p.Ser193Leu
ENST00000695975.1:c.578C>T	ENSP00000512302.1:p.Ser193Leu
ENST00000695976.1:c.389C>T	ENSP00000512303.1:p.Ser130Leu
ENST00000695978.1:c.578C>T	ENSP00000512304.1:p.Ser193Leu
ENST00000695979.1:c.578C>T	ENSP00000512305.1:p.Ser193Leu
ENST00000695980.1:n.698C>T
ENST00000695981.1:c.578C>T	ENSP00000512306.1:p.Ser193Leu
ENST00000695983.1:c.578C>T	ENSP00000512308.1:p.Ser193Leu
ENST00000695984.1:c.244+4463C>T	ENSP00000512309.1:n.244+4463C>T
ENST00000695986.1:c.*229C>T	ENSP00000512311.1:n.*229C>T
ENST00000695987.1:c.389C>T	ENSP00000512312.1:p.Ser130Leu
ENST00000696018.1:n.662C>T
ENST00000696019.1:n.662C>T
ENST00000696020.1:n.662C>T
ENST00000696021.1:n.662C>T
ENST00000696022.1:n.662C>T
ENST00000696023.1:c.578C>T	ENSP00000512334.1:p.Ser193Leu
ENST00000696024.1:n.662C>T
ENST00000696025.1:n.662C>T
ENST00000696026.1:c.578C>T	ENSP00000512335.1:p.Ser193Leu
ENST00000696027.1:c.578C>T	ENSP00000512336.1:p.Ser193Leu
ENST00000696028.1:c.578C>T	ENSP00000512337.1:p.Ser193Leu
ENST00000696029.1:c.578C>T	ENSP00000512338.1:p.Ser193Leu
ENST00000696030.1:c.578C>T	ENSP00000512339.1:p.Ser193Leu
ENST00000696031.1:c.578C>T	ENSP00000512340.1:p.Ser193Leu
ENST00000696032.1:c.578C>T	ENSP00000512341.1:p.Ser193Leu
ENST00000696033.1:c.578C>T	ENSP00000512342.1:p.Ser193Leu
ENST00000367429.9:c.578C>T MANE Select	ENSP00000356399.4:p.Ser193Leu
ENST00000359637.2:c.427+1561C>T	ENSP00000352658.2:n.427+1561C>T
ENST00000367429.8:c.578C>T	ENSP00000356399.4:p.Ser193Leu
ENST00000466229.5:n.639C>T
ENST00000630130.2:c.578C>T	ENSP00000487250.1:p.Ser193Leu
NM_000186.3:c.578C>T , LRG_47t1:c.578C>T	NP_000177.2:p.Ser193Leu
NM_001014975.2:c.578C>T	NP_001014975.1:p.Ser193Leu
XM_017001108.2:c.578C>T	XP_016856597.1:p.Ser193Leu
XR_001737134.2:n.663C>T
NM_000186.4:c.578C>T MANE Select	NP_000177.2:p.Ser193Leu
NM_001014975.3:c.578C>T	NP_001014975.1:p.Ser193Leu