Canonical Allele Identifier: CA343988115

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716372T>C (hg19) ; chr1:g.196747242T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747242T>C , CM000663.2:g.196747242T>C	GRCh38
NC_000001.10:g.196716372T>C , CM000663.1:g.196716372T>C	GRCh37
NC_000001.9:g.194982995T>C	NCBI36
NG_007259.1:g.100232T>C , LRG_47:g.100232T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4653T>C
ENST00000695970.1:c.3451T>C	ENSP00000512297.1:p.Ser1151Pro
ENST00000695971.1:c.3604T>C	ENSP00000512298.1:p.Ser1202Pro
ENST00000695972.1:c.*702T>C	ENSP00000512299.1:n.*702T>C
ENST00000695973.1:c.*1989T>C	ENSP00000512300.1:n.*1989T>C
ENST00000695974.1:c.3448T>C	ENSP00000512301.1:p.Ser1150Pro
ENST00000695975.1:c.*1752T>C	ENSP00000512302.1:n.*1752T>C
ENST00000695976.1:c.3436T>C	ENSP00000512303.1:p.Ser1146Pro
ENST00000695981.1:c.3580+45T>C	ENSP00000512306.1:n.3580+45T>C
ENST00000695984.1:c.1633T>C	ENSP00000512309.1:p.Ser545Pro
ENST00000695986.1:c.*3276T>C	ENSP00000512311.1:n.*3276T>C
ENST00000695990.1:n.659T>C
ENST00000696026.1:c.*1907T>C	ENSP00000512335.1:n.*1907T>C
ENST00000696027.1:c.3619T>C	ENSP00000512336.1:p.Ser1207Pro
ENST00000696028.1:c.3553T>C	ENSP00000512337.1:p.Ser1185Pro
ENST00000696029.1:c.3619T>C	ENSP00000512338.1:p.Ser1207Pro
ENST00000696031.1:c.*3143T>C	ENSP00000512340.1:n.*3143T>C
ENST00000696032.1:c.3580+45T>C	ENSP00000512341.1:n.3580+45T>C
ENST00000696033.1:c.1160-32555T>C	ENSP00000512342.1:n.1160-32555T>C
ENST00000367429.9:c.3625T>C MANE Select	ENSP00000356399.4:p.Ser1209Pro
ENST00000367429.8:c.3625T>C	ENSP00000356399.4:p.Ser1209Pro
ENST00000466229.5:n.6723T>C
NM_000186.3:c.3625T>C , LRG_47t1:c.3625T>C	NP_000177.2:p.Ser1209Pro
XR_001737134.2:n.3811T>C
NM_000186.4:c.3625T>C MANE Select	NP_000177.2:p.Ser1209Pro