Canonical Allele Identifier: CA422663617

Gene: CFH

Linked Data

• dbSNP Id: rs1209918508
• MyVariant Identifiers: chr1:g.196716380T>C (hg19) ; chr1:g.196747250T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747250T>C , CM000663.2:g.196747250T>C	GRCh38
NC_000001.10:g.196716380T>C , CM000663.1:g.196716380T>C	GRCh37
NC_000001.9:g.194983003T>C	NCBI36
NG_007259.1:g.100240T>C , LRG_47:g.100240T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4661T>C
ENST00000695970.1:c.3459T>C	ENSP00000512297.1:p.Ser1153=
ENST00000695971.1:c.3612T>C	ENSP00000512298.1:p.Ser1204=
ENST00000695972.1:c.*710T>C	ENSP00000512299.1:n.*710T>C
ENST00000695973.1:c.*1997T>C	ENSP00000512300.1:n.*1997T>C
ENST00000695974.1:c.3456T>C	ENSP00000512301.1:p.Ser1152=
ENST00000695975.1:c.*1760T>C	ENSP00000512302.1:n.*1760T>C
ENST00000695976.1:c.3444T>C	ENSP00000512303.1:p.Ser1148=
ENST00000695981.1:c.3580+53T>C	ENSP00000512306.1:n.3580+53T>C
ENST00000695984.1:c.1641T>C	ENSP00000512309.1:p.Ser547=
ENST00000695986.1:c.*3284T>C	ENSP00000512311.1:n.*3284T>C
ENST00000695990.1:n.667T>C
ENST00000696026.1:c.*1915T>C	ENSP00000512335.1:n.*1915T>C
ENST00000696027.1:c.3627T>C	ENSP00000512336.1:p.Ser1209=
ENST00000696028.1:c.3561T>C	ENSP00000512337.1:p.Ser1187=
ENST00000696029.1:c.3627T>C	ENSP00000512338.1:p.Ser1209=
ENST00000696031.1:c.*3151T>C	ENSP00000512340.1:n.*3151T>C
ENST00000696032.1:c.3580+53T>C	ENSP00000512341.1:n.3580+53T>C
ENST00000696033.1:c.1160-32547T>C	ENSP00000512342.1:n.1160-32547T>C
ENST00000367429.9:c.3633T>C MANE Select	ENSP00000356399.4:p.Ser1211=
ENST00000367429.8:c.3633T>C	ENSP00000356399.4:p.Ser1211=
ENST00000466229.5:n.6731T>C
NM_000186.3:c.3633T>C , LRG_47t1:c.3633T>C	NP_000177.2:p.Ser1211=
XR_001737134.2:n.3819T>C
NM_000186.4:c.3633T>C MANE Select	NP_000177.2:p.Ser1211=