Canonical Allele Identifier: CA343984118

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712753G>C (hg19) ; chr1:g.196743623G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743623G>C , CM000663.2:g.196743623G>C	GRCh38
NC_000001.10:g.196712753G>C , CM000663.1:g.196712753G>C	GRCh37
NC_000001.9:g.194979376G>C	NCBI36
NG_007259.1:g.96613G>C , LRG_47:g.96613G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4333G>C
ENST00000695970.1:c.3131G>C	ENSP00000512297.1:p.Cys1044Ser
ENST00000695971.1:c.3284G>C	ENSP00000512298.1:p.Cys1095Ser
ENST00000695972.1:c.*382G>C	ENSP00000512299.1:n.*382G>C
ENST00000695973.1:c.*1669G>C	ENSP00000512300.1:n.*1669G>C
ENST00000695974.1:c.3128G>C	ENSP00000512301.1:p.Cys1043Ser
ENST00000695975.1:c.*1432G>C	ENSP00000512302.1:n.*1432G>C
ENST00000695976.1:c.3116G>C	ENSP00000512303.1:p.Cys1039Ser
ENST00000695981.1:c.3305G>C	ENSP00000512306.1:p.Cys1102Ser
ENST00000695984.1:c.1313G>C	ENSP00000512309.1:p.Cys438Ser
ENST00000695986.1:c.*2956G>C	ENSP00000512311.1:n.*2956G>C
ENST00000696026.1:c.*1587G>C	ENSP00000512335.1:n.*1587G>C
ENST00000696027.1:c.3299G>C	ENSP00000512336.1:p.Cys1100Ser
ENST00000696028.1:c.3233G>C	ENSP00000512337.1:p.Cys1078Ser
ENST00000696029.1:c.3299G>C	ENSP00000512338.1:p.Cys1100Ser
ENST00000696031.1:c.*2823G>C	ENSP00000512340.1:n.*2823G>C
ENST00000696032.1:c.3305G>C	ENSP00000512341.1:p.Cys1102Ser
ENST00000696033.1:c.1160-36174G>C	ENSP00000512342.1:n.1160-36174G>C
ENST00000367429.9:c.3305G>C MANE Select	ENSP00000356399.4:p.Cys1102Ser
ENST00000367429.8:c.3305G>C	ENSP00000356399.4:p.Cys1102Ser
ENST00000466229.5:n.6403G>C
NM_000186.3:c.3305G>C , LRG_47t1:c.3305G>C	NP_000177.2:p.Cys1102Ser
XR_001737134.2:n.3491G>C
NM_000186.4:c.3305G>C MANE Select	NP_000177.2:p.Cys1102Ser