Canonical Allele Identifier: CA422663581

Gene: CFH

Linked Data

• dbSNP Id: rs61743622
• COSMIC: COSM4576712
• MyVariant Identifiers: chr1:g.196716356G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747226G>C , CM000663.2:g.196747226G>C	GRCh38
NC_000001.10:g.196716356G>C , CM000663.1:g.196716356G>C	GRCh37
NC_000001.9:g.194982979G>C	NCBI36
NG_007259.1:g.100216G>C , LRG_47:g.100216G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4637G>C
ENST00000695970.1:c.3435G>C	ENSP00000512297.1:p.Arg1145=
ENST00000695971.1:c.3588G>C	ENSP00000512298.1:p.Arg1196=
ENST00000695972.1:c.*686G>C	ENSP00000512299.1:n.*686G>C
ENST00000695973.1:c.*1973G>C	ENSP00000512300.1:n.*1973G>C
ENST00000695974.1:c.3432G>C	ENSP00000512301.1:p.Arg1144=
ENST00000695975.1:c.*1736G>C	ENSP00000512302.1:n.*1736G>C
ENST00000695976.1:c.3420G>C	ENSP00000512303.1:p.Arg1140=
ENST00000695981.1:c.3580+29G>C	ENSP00000512306.1:n.3580+29G>C
ENST00000695984.1:c.1617G>C	ENSP00000512309.1:p.Arg539=
ENST00000695986.1:c.*3260G>C	ENSP00000512311.1:n.*3260G>C
ENST00000695990.1:n.643G>C
ENST00000696026.1:c.*1891G>C	ENSP00000512335.1:n.*1891G>C
ENST00000696027.1:c.3603G>C	ENSP00000512336.1:p.Arg1201=
ENST00000696028.1:c.3537G>C	ENSP00000512337.1:p.Arg1179=
ENST00000696029.1:c.3603G>C	ENSP00000512338.1:p.Arg1201=
ENST00000696031.1:c.*3127G>C	ENSP00000512340.1:n.*3127G>C
ENST00000696032.1:c.3580+29G>C	ENSP00000512341.1:n.3580+29G>C
ENST00000696033.1:c.1160-32571G>C	ENSP00000512342.1:n.1160-32571G>C
ENST00000367429.9:c.3609G>C MANE Select	ENSP00000356399.4:p.Arg1203=
ENST00000367429.8:c.3609G>C	ENSP00000356399.4:p.Arg1203=
ENST00000466229.5:n.6707G>C
NM_000186.3:c.3609G>C , LRG_47t1:c.3609G>C	NP_000177.2:p.Arg1203=
XR_001737134.2:n.3795G>C
NM_000186.4:c.3609G>C MANE Select	NP_000177.2:p.Arg1203=