Canonical Allele Identifier: CA343988060

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716361A>C (hg19) ; chr1:g.196747231A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747231A>C , CM000663.2:g.196747231A>C	GRCh38
NC_000001.10:g.196716361A>C , CM000663.1:g.196716361A>C	GRCh37
NC_000001.9:g.194982984A>C	NCBI36
NG_007259.1:g.100221A>C , LRG_47:g.100221A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4642A>C
ENST00000695970.1:c.3440A>C	ENSP00000512297.1:p.Tyr1147Ser
ENST00000695971.1:c.3593A>C	ENSP00000512298.1:p.Tyr1198Ser
ENST00000695972.1:c.*691A>C	ENSP00000512299.1:n.*691A>C
ENST00000695973.1:c.*1978A>C	ENSP00000512300.1:n.*1978A>C
ENST00000695974.1:c.3437A>C	ENSP00000512301.1:p.Tyr1146Ser
ENST00000695975.1:c.*1741A>C	ENSP00000512302.1:n.*1741A>C
ENST00000695976.1:c.3425A>C	ENSP00000512303.1:p.Tyr1142Ser
ENST00000695981.1:c.3580+34A>C	ENSP00000512306.1:n.3580+34A>C
ENST00000695984.1:c.1622A>C	ENSP00000512309.1:p.Tyr541Ser
ENST00000695986.1:c.*3265A>C	ENSP00000512311.1:n.*3265A>C
ENST00000695990.1:n.648A>C
ENST00000696026.1:c.*1896A>C	ENSP00000512335.1:n.*1896A>C
ENST00000696027.1:c.3608A>C	ENSP00000512336.1:p.Tyr1203Ser
ENST00000696028.1:c.3542A>C	ENSP00000512337.1:p.Tyr1181Ser
ENST00000696029.1:c.3608A>C	ENSP00000512338.1:p.Tyr1203Ser
ENST00000696031.1:c.*3132A>C	ENSP00000512340.1:n.*3132A>C
ENST00000696032.1:c.3580+34A>C	ENSP00000512341.1:n.3580+34A>C
ENST00000696033.1:c.1160-32566A>C	ENSP00000512342.1:n.1160-32566A>C
ENST00000367429.9:c.3614A>C MANE Select	ENSP00000356399.4:p.Tyr1205Ser
ENST00000367429.8:c.3614A>C	ENSP00000356399.4:p.Tyr1205Ser
ENST00000466229.5:n.6712A>C
NM_000186.3:c.3614A>C , LRG_47t1:c.3614A>C	NP_000177.2:p.Tyr1205Ser
XR_001737134.2:n.3800A>C
NM_000186.4:c.3614A>C MANE Select	NP_000177.2:p.Tyr1205Ser