Canonical Allele Identifier: CA343987216

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716274A>C (hg19) ; chr1:g.196747144A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747144A>C , CM000663.2:g.196747144A>C	GRCh38
NC_000001.10:g.196716274A>C , CM000663.1:g.196716274A>C	GRCh37
NC_000001.9:g.194982897A>C	NCBI36
NG_007259.1:g.100134A>C , LRG_47:g.100134A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4555A>C
ENST00000695970.1:c.3353A>C	ENSP00000512297.1:p.Asn1118Thr
ENST00000695971.1:c.3506A>C	ENSP00000512298.1:p.Asn1169Thr
ENST00000695972.1:c.*604A>C	ENSP00000512299.1:n.*604A>C
ENST00000695973.1:c.*1891A>C	ENSP00000512300.1:n.*1891A>C
ENST00000695974.1:c.3350A>C	ENSP00000512301.1:p.Asn1117Thr
ENST00000695975.1:c.*1654A>C	ENSP00000512302.1:n.*1654A>C
ENST00000695976.1:c.3338A>C	ENSP00000512303.1:p.Asn1113Thr
ENST00000695981.1:c.3527A>C	ENSP00000512306.1:p.Asn1176Thr
ENST00000695984.1:c.1535A>C	ENSP00000512309.1:p.Asn512Thr
ENST00000695986.1:c.*3178A>C	ENSP00000512311.1:n.*3178A>C
ENST00000695990.1:n.561A>C
ENST00000696026.1:c.*1809A>C	ENSP00000512335.1:n.*1809A>C
ENST00000696027.1:c.3521A>C	ENSP00000512336.1:p.Asn1174Thr
ENST00000696028.1:c.3455A>C	ENSP00000512337.1:p.Asn1152Thr
ENST00000696029.1:c.3521A>C	ENSP00000512338.1:p.Asn1174Thr
ENST00000696031.1:c.*3045A>C	ENSP00000512340.1:n.*3045A>C
ENST00000696032.1:c.3527A>C	ENSP00000512341.1:p.Asn1176Thr
ENST00000696033.1:c.1160-32653A>C	ENSP00000512342.1:n.1160-32653A>C
ENST00000367429.9:c.3527A>C MANE Select	ENSP00000356399.4:p.Asn1176Thr
ENST00000367429.8:c.3527A>C	ENSP00000356399.4:p.Asn1176Thr
ENST00000466229.5:n.6625A>C
NM_000186.3:c.3527A>C , LRG_47t1:c.3527A>C	NP_000177.2:p.Asn1176Thr
XR_001737134.2:n.3713A>C
NM_000186.4:c.3527A>C MANE Select	NP_000177.2:p.Asn1176Thr