Canonical Allele Identifier: CA343989633

Gene: CFH

Linked Data

• dbSNP Id: rs1653050852
• MyVariant Identifiers: chr1:g.196716439G>C (hg19) ; chr1:g.196747309G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747309G>C , CM000663.2:g.196747309G>C	GRCh38
NC_000001.10:g.196716439G>C , CM000663.1:g.196716439G>C	GRCh37
NC_000001.9:g.194983062G>C	NCBI36
NG_007259.1:g.100299G>C , LRG_47:g.100299G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4720G>C
ENST00000695970.1:c.3518G>C	ENSP00000512297.1:p.Arg1173Thr
ENST00000695971.1:c.3671G>C	ENSP00000512298.1:p.Arg1224Thr
ENST00000695972.1:c.*769G>C	ENSP00000512299.1:n.*769G>C
ENST00000695973.1:c.*2056G>C	ENSP00000512300.1:n.*2056G>C
ENST00000695974.1:c.3515G>C	ENSP00000512301.1:p.Arg1172Thr
ENST00000695975.1:c.*1819G>C	ENSP00000512302.1:n.*1819G>C
ENST00000695976.1:c.3503G>C	ENSP00000512303.1:p.Arg1168Thr
ENST00000695981.1:c.3580+112G>C	ENSP00000512306.1:n.3580+112G>C
ENST00000695984.1:c.1700G>C	ENSP00000512309.1:p.Arg567Thr
ENST00000695986.1:c.*3343G>C	ENSP00000512311.1:n.*3343G>C
ENST00000695990.1:n.726G>C
ENST00000696026.1:c.*1974G>C	ENSP00000512335.1:n.*1974G>C
ENST00000696027.1:c.3686G>C	ENSP00000512336.1:p.Arg1229Thr
ENST00000696028.1:c.3620G>C	ENSP00000512337.1:p.Arg1207Thr
ENST00000696029.1:c.3686G>C	ENSP00000512338.1:p.Arg1229Thr
ENST00000696031.1:c.*3210G>C	ENSP00000512340.1:n.*3210G>C
ENST00000696032.1:c.3580+112G>C	ENSP00000512341.1:n.3580+112G>C
ENST00000696033.1:c.1160-32488G>C	ENSP00000512342.1:n.1160-32488G>C
ENST00000367429.9:c.3692G>C MANE Select	ENSP00000356399.4:p.Arg1231Thr
ENST00000367429.8:c.3692G>C	ENSP00000356399.4:p.Arg1231Thr
ENST00000466229.5:n.6790G>C
NM_000186.3:c.3692G>C , LRG_47t1:c.3692G>C	NP_000177.2:p.Arg1231Thr
XR_001737134.2:n.3878G>C
NM_000186.4:c.3692G>C MANE Select	NP_000177.2:p.Arg1231Thr