Canonical Allele Identifier: CA1217770780

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747241A= , CM000663.2:g.196747241A=	GRCh38
NC_000001.10:g.196716371A= , CM000663.1:g.196716371A=	GRCh37
NC_000001.9:g.194982994A=	NCBI36
NG_007259.1:g.100231A= , LRG_47:g.100231A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4652A=
ENST00000695970.1:c.3450A=	ENSP00000512297.1:p.Ser1150=
ENST00000695971.1:c.3603A=	ENSP00000512298.1:p.Ser1201=
ENST00000695972.1:c.*701A=	ENSP00000512299.1:n.*701A=
ENST00000695973.1:c.*1988A=	ENSP00000512300.1:n.*1988A=
ENST00000695974.1:c.3447A=	ENSP00000512301.1:p.Ser1149=
ENST00000695975.1:c.*1751A=	ENSP00000512302.1:n.*1751A=
ENST00000695976.1:c.3435A=	ENSP00000512303.1:p.Ser1145=
ENST00000695981.1:c.3580+44A=	ENSP00000512306.1:n.3580+44A=
ENST00000695984.1:c.1632A=	ENSP00000512309.1:p.Ser544=
ENST00000695986.1:c.*3275A=	ENSP00000512311.1:n.*3275A=
ENST00000695990.1:n.658A=
ENST00000696026.1:c.*1906A=	ENSP00000512335.1:n.*1906A=
ENST00000696027.1:c.3618A=	ENSP00000512336.1:p.Ser1206=
ENST00000696028.1:c.3552A=	ENSP00000512337.1:p.Ser1184=
ENST00000696029.1:c.3618A=	ENSP00000512338.1:p.Ser1206=
ENST00000696031.1:c.*3142A=	ENSP00000512340.1:n.*3142A=
ENST00000696032.1:c.3580+44A=	ENSP00000512341.1:n.3580+44A=
ENST00000696033.1:c.1160-32556A=	ENSP00000512342.1:n.1160-32556A=
ENST00000367429.9:c.3624A= MANE Select	ENSP00000356399.4:p.Ser1208=
ENST00000367429.8:c.3624A=	ENSP00000356399.4:p.Ser1208=
ENST00000466229.5:n.6722A=
NM_000186.3:c.3624A= , LRG_47t1:c.3624A=	NP_000177.2:p.Ser1208=
XR_001737134.2:n.3810A=
NM_000186.4:c.3624A= MANE Select	NP_000177.2:p.Ser1208=