Canonical Allele Identifier: CA343989475

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716430G>C (hg19) ; chr1:g.196747300G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747300G>C , CM000663.2:g.196747300G>C	GRCh38
NC_000001.10:g.196716430G>C , CM000663.1:g.196716430G>C	GRCh37
NC_000001.9:g.194983053G>C	NCBI36
NG_007259.1:g.100290G>C , LRG_47:g.100290G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4711G>C
ENST00000695970.1:c.3509G>C	ENSP00000512297.1:p.Cys1170Ser
ENST00000695971.1:c.3662G>C	ENSP00000512298.1:p.Cys1221Ser
ENST00000695972.1:c.*760G>C	ENSP00000512299.1:n.*760G>C
ENST00000695973.1:c.*2047G>C	ENSP00000512300.1:n.*2047G>C
ENST00000695974.1:c.3506G>C	ENSP00000512301.1:p.Cys1169Ser
ENST00000695975.1:c.*1810G>C	ENSP00000512302.1:n.*1810G>C
ENST00000695976.1:c.3494G>C	ENSP00000512303.1:p.Cys1165Ser
ENST00000695981.1:c.3580+103G>C	ENSP00000512306.1:n.3580+103G>C
ENST00000695984.1:c.1691G>C	ENSP00000512309.1:p.Cys564Ser
ENST00000695986.1:c.*3334G>C	ENSP00000512311.1:n.*3334G>C
ENST00000695990.1:n.717G>C
ENST00000696026.1:c.*1965G>C	ENSP00000512335.1:n.*1965G>C
ENST00000696027.1:c.3677G>C	ENSP00000512336.1:p.Cys1226Ser
ENST00000696028.1:c.3611G>C	ENSP00000512337.1:p.Cys1204Ser
ENST00000696029.1:c.3677G>C	ENSP00000512338.1:p.Cys1226Ser
ENST00000696031.1:c.*3201G>C	ENSP00000512340.1:n.*3201G>C
ENST00000696032.1:c.3580+103G>C	ENSP00000512341.1:n.3580+103G>C
ENST00000696033.1:c.1160-32497G>C	ENSP00000512342.1:n.1160-32497G>C
ENST00000367429.9:c.3683G>C MANE Select	ENSP00000356399.4:p.Cys1228Ser
ENST00000367429.8:c.3683G>C	ENSP00000356399.4:p.Cys1228Ser
ENST00000466229.5:n.6781G>C
NM_000186.3:c.3683G>C , LRG_47t1:c.3683G>C	NP_000177.2:p.Cys1228Ser
XR_001737134.2:n.3869G>C
NM_000186.4:c.3683G>C MANE Select	NP_000177.2:p.Cys1228Ser