Canonical Allele Identifier: CA343987138

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716269G>C (hg19) ; chr1:g.196747139G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747139G>C , CM000663.2:g.196747139G>C	GRCh38
NC_000001.10:g.196716269G>C , CM000663.1:g.196716269G>C	GRCh37
NC_000001.9:g.194982892G>C	NCBI36
NG_007259.1:g.100129G>C , LRG_47:g.100129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4550G>C
ENST00000695970.1:c.3348G>C	ENSP00000512297.1:p.Met1116Ile
ENST00000695971.1:c.3501G>C	ENSP00000512298.1:p.Met1167Ile
ENST00000695972.1:c.*599G>C	ENSP00000512299.1:n.*599G>C
ENST00000695973.1:c.*1886G>C	ENSP00000512300.1:n.*1886G>C
ENST00000695974.1:c.3345G>C	ENSP00000512301.1:p.Met1115Ile
ENST00000695975.1:c.*1649G>C	ENSP00000512302.1:n.*1649G>C
ENST00000695976.1:c.3333G>C	ENSP00000512303.1:p.Met1111Ile
ENST00000695981.1:c.3522G>C	ENSP00000512306.1:p.Met1174Ile
ENST00000695984.1:c.1530G>C	ENSP00000512309.1:p.Met510Ile
ENST00000695986.1:c.*3173G>C	ENSP00000512311.1:n.*3173G>C
ENST00000695990.1:n.556G>C
ENST00000696026.1:c.*1804G>C	ENSP00000512335.1:n.*1804G>C
ENST00000696027.1:c.3516G>C	ENSP00000512336.1:p.Met1172Ile
ENST00000696028.1:c.3450G>C	ENSP00000512337.1:p.Met1150Ile
ENST00000696029.1:c.3516G>C	ENSP00000512338.1:p.Met1172Ile
ENST00000696031.1:c.*3040G>C	ENSP00000512340.1:n.*3040G>C
ENST00000696032.1:c.3522G>C	ENSP00000512341.1:p.Met1174Ile
ENST00000696033.1:c.1160-32658G>C	ENSP00000512342.1:n.1160-32658G>C
ENST00000367429.9:c.3522G>C MANE Select	ENSP00000356399.4:p.Met1174Ile
ENST00000367429.8:c.3522G>C	ENSP00000356399.4:p.Met1174Ile
ENST00000466229.5:n.6620G>C
NM_000186.3:c.3522G>C , LRG_47t1:c.3522G>C	NP_000177.2:p.Met1174Ile
XR_001737134.2:n.3708G>C
NM_000186.4:c.3522G>C MANE Select	NP_000177.2:p.Met1174Ile