Canonical Allele Identifier: CA343987732

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716322G>C (hg19) ; chr1:g.196747192G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747192G>C , CM000663.2:g.196747192G>C	GRCh38
NC_000001.10:g.196716322G>C , CM000663.1:g.196716322G>C	GRCh37
NC_000001.9:g.194982945G>C	NCBI36
NG_007259.1:g.100182G>C , LRG_47:g.100182G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4603G>C
ENST00000695970.1:c.3401G>C	ENSP00000512297.1:p.Arg1134Thr
ENST00000695971.1:c.3554G>C	ENSP00000512298.1:p.Arg1185Thr
ENST00000695972.1:c.*652G>C	ENSP00000512299.1:n.*652G>C
ENST00000695973.1:c.*1939G>C	ENSP00000512300.1:n.*1939G>C
ENST00000695974.1:c.3398G>C	ENSP00000512301.1:p.Arg1133Thr
ENST00000695975.1:c.*1702G>C	ENSP00000512302.1:n.*1702G>C
ENST00000695976.1:c.3386G>C	ENSP00000512303.1:p.Arg1129Thr
ENST00000695981.1:c.3575G>C	ENSP00000512306.1:p.Arg1192Thr
ENST00000695984.1:c.1583G>C	ENSP00000512309.1:p.Arg528Thr
ENST00000695986.1:c.*3226G>C	ENSP00000512311.1:n.*3226G>C
ENST00000695990.1:n.609G>C
ENST00000696026.1:c.*1857G>C	ENSP00000512335.1:n.*1857G>C
ENST00000696027.1:c.3569G>C	ENSP00000512336.1:p.Arg1190Thr
ENST00000696028.1:c.3503G>C	ENSP00000512337.1:p.Arg1168Thr
ENST00000696029.1:c.3569G>C	ENSP00000512338.1:p.Arg1190Thr
ENST00000696031.1:c.*3093G>C	ENSP00000512340.1:n.*3093G>C
ENST00000696032.1:c.3575G>C	ENSP00000512341.1:p.Arg1192Thr
ENST00000696033.1:c.1160-32605G>C	ENSP00000512342.1:n.1160-32605G>C
ENST00000367429.9:c.3575G>C MANE Select	ENSP00000356399.4:p.Arg1192Thr
ENST00000367429.8:c.3575G>C	ENSP00000356399.4:p.Arg1192Thr
ENST00000466229.5:n.6673G>C
NM_000186.3:c.3575G>C , LRG_47t1:c.3575G>C	NP_000177.2:p.Arg1192Thr
XR_001737134.2:n.3761G>C
NM_000186.4:c.3575G>C MANE Select	NP_000177.2:p.Arg1192Thr