Canonical Allele Identifier: CA422662854

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712595G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743465G>C , CM000663.2:g.196743465G>C	GRCh38
NC_000001.10:g.196712595G>C , CM000663.1:g.196712595G>C	GRCh37
NC_000001.9:g.194979218G>C	NCBI36
NG_007259.1:g.96455G>C , LRG_47:g.96455G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4175G>C
ENST00000695970.1:c.2973G>C	ENSP00000512297.1:p.Val991=
ENST00000695971.1:c.3126G>C	ENSP00000512298.1:p.Val1042=
ENST00000695972.1:c.*224G>C	ENSP00000512299.1:n.*224G>C
ENST00000695973.1:c.*1511G>C	ENSP00000512300.1:n.*1511G>C
ENST00000695974.1:c.2970G>C	ENSP00000512301.1:p.Val990=
ENST00000695975.1:c.*1274G>C	ENSP00000512302.1:n.*1274G>C
ENST00000695976.1:c.2958G>C	ENSP00000512303.1:p.Val986=
ENST00000695981.1:c.3147G>C	ENSP00000512306.1:p.Val1049=
ENST00000695984.1:c.1155G>C	ENSP00000512309.1:p.Val385=
ENST00000695986.1:c.*2798G>C	ENSP00000512311.1:n.*2798G>C
ENST00000696026.1:c.*1429G>C	ENSP00000512335.1:n.*1429G>C
ENST00000696027.1:c.3141G>C	ENSP00000512336.1:p.Val1047=
ENST00000696028.1:c.3075G>C	ENSP00000512337.1:p.Val1025=
ENST00000696029.1:c.3141G>C	ENSP00000512338.1:p.Val1047=
ENST00000696031.1:c.*2665G>C	ENSP00000512340.1:n.*2665G>C
ENST00000696032.1:c.3147G>C	ENSP00000512341.1:p.Val1049=
ENST00000696033.1:c.1160-36332G>C	ENSP00000512342.1:n.1160-36332G>C
ENST00000367429.9:c.3147G>C MANE Select	ENSP00000356399.4:p.Val1049=
ENST00000367429.8:c.3147G>C	ENSP00000356399.4:p.Val1049=
ENST00000466229.5:n.6245G>C
NM_000186.3:c.3147G>C , LRG_47t1:c.3147G>C	NP_000177.2:p.Val1049=
XR_001737134.2:n.3333G>C
NM_000186.4:c.3147G>C MANE Select	NP_000177.2:p.Val1049=