Canonical Allele Identifier: CA343983403

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712648A>C (hg19) ; chr1:g.196743518A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743518A>C , CM000663.2:g.196743518A>C	GRCh38
NC_000001.10:g.196712648A>C , CM000663.1:g.196712648A>C	GRCh37
NC_000001.9:g.194979271A>C	NCBI36
NG_007259.1:g.96508A>C , LRG_47:g.96508A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4228A>C
ENST00000695970.1:c.3026A>C	ENSP00000512297.1:p.Tyr1009Ser
ENST00000695971.1:c.3179A>C	ENSP00000512298.1:p.Tyr1060Ser
ENST00000695972.1:c.*277A>C	ENSP00000512299.1:n.*277A>C
ENST00000695973.1:c.*1564A>C	ENSP00000512300.1:n.*1564A>C
ENST00000695974.1:c.3023A>C	ENSP00000512301.1:p.Tyr1008Ser
ENST00000695975.1:c.*1327A>C	ENSP00000512302.1:n.*1327A>C
ENST00000695976.1:c.3011A>C	ENSP00000512303.1:p.Tyr1004Ser
ENST00000695981.1:c.3200A>C	ENSP00000512306.1:p.Tyr1067Ser
ENST00000695984.1:c.1208A>C	ENSP00000512309.1:p.Tyr403Ser
ENST00000695986.1:c.*2851A>C	ENSP00000512311.1:n.*2851A>C
ENST00000696026.1:c.*1482A>C	ENSP00000512335.1:n.*1482A>C
ENST00000696027.1:c.3194A>C	ENSP00000512336.1:p.Tyr1065Ser
ENST00000696028.1:c.3128A>C	ENSP00000512337.1:p.Tyr1043Ser
ENST00000696029.1:c.3194A>C	ENSP00000512338.1:p.Tyr1065Ser
ENST00000696031.1:c.*2718A>C	ENSP00000512340.1:n.*2718A>C
ENST00000696032.1:c.3200A>C	ENSP00000512341.1:p.Tyr1067Ser
ENST00000696033.1:c.1160-36279A>C	ENSP00000512342.1:n.1160-36279A>C
ENST00000367429.9:c.3200A>C MANE Select	ENSP00000356399.4:p.Tyr1067Ser
ENST00000367429.8:c.3200A>C	ENSP00000356399.4:p.Tyr1067Ser
ENST00000466229.5:n.6298A>C
NM_000186.3:c.3200A>C , LRG_47t1:c.3200A>C	NP_000177.2:p.Tyr1067Ser
XR_001737134.2:n.3386A>C
NM_000186.4:c.3200A>C MANE Select	NP_000177.2:p.Tyr1067Ser