Canonical Allele Identifier: CA422663603

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716371A>C (hg19)

Genomic Alleles

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

Transcript Alleles

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