Canonical Allele Identifier: CA343988104

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716369T>C (hg19) ; chr1:g.196747239T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747239T>C , CM000663.2:g.196747239T>C	GRCh38
NC_000001.10:g.196716369T>C , CM000663.1:g.196716369T>C	GRCh37
NC_000001.9:g.194982992T>C	NCBI36
NG_007259.1:g.100229T>C , LRG_47:g.100229T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4650T>C
ENST00000695970.1:c.3448T>C	ENSP00000512297.1:p.Ser1150Pro
ENST00000695971.1:c.3601T>C	ENSP00000512298.1:p.Ser1201Pro
ENST00000695972.1:c.*699T>C	ENSP00000512299.1:n.*699T>C
ENST00000695973.1:c.*1986T>C	ENSP00000512300.1:n.*1986T>C
ENST00000695974.1:c.3445T>C	ENSP00000512301.1:p.Ser1149Pro
ENST00000695975.1:c.*1749T>C	ENSP00000512302.1:n.*1749T>C
ENST00000695976.1:c.3433T>C	ENSP00000512303.1:p.Ser1145Pro
ENST00000695981.1:c.3580+42T>C	ENSP00000512306.1:n.3580+42T>C
ENST00000695984.1:c.1630T>C	ENSP00000512309.1:p.Ser544Pro
ENST00000695986.1:c.*3273T>C	ENSP00000512311.1:n.*3273T>C
ENST00000695990.1:n.656T>C
ENST00000696026.1:c.*1904T>C	ENSP00000512335.1:n.*1904T>C
ENST00000696027.1:c.3616T>C	ENSP00000512336.1:p.Ser1206Pro
ENST00000696028.1:c.3550T>C	ENSP00000512337.1:p.Ser1184Pro
ENST00000696029.1:c.3616T>C	ENSP00000512338.1:p.Ser1206Pro
ENST00000696031.1:c.*3140T>C	ENSP00000512340.1:n.*3140T>C
ENST00000696032.1:c.3580+42T>C	ENSP00000512341.1:n.3580+42T>C
ENST00000696033.1:c.1160-32558T>C	ENSP00000512342.1:n.1160-32558T>C
ENST00000367429.9:c.3622T>C MANE Select	ENSP00000356399.4:p.Ser1208Pro
ENST00000367429.8:c.3622T>C	ENSP00000356399.4:p.Ser1208Pro
ENST00000466229.5:n.6720T>C
NM_000186.3:c.3622T>C , LRG_47t1:c.3622T>C	NP_000177.2:p.Ser1208Pro
XR_001737134.2:n.3808T>C
NM_000186.4:c.3622T>C MANE Select	NP_000177.2:p.Ser1208Pro