Canonical Allele Identifier: CA343987249

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716277A>C (hg19) ; chr1:g.196747147A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747147A>C , CM000663.2:g.196747147A>C	GRCh38
NC_000001.10:g.196716277A>C , CM000663.1:g.196716277A>C	GRCh37
NC_000001.9:g.194982900A>C	NCBI36
NG_007259.1:g.100137A>C , LRG_47:g.100137A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4558A>C
ENST00000695970.1:c.3356A>C	ENSP00000512297.1:p.Tyr1119Ser
ENST00000695971.1:c.3509A>C	ENSP00000512298.1:p.Tyr1170Ser
ENST00000695972.1:c.*607A>C	ENSP00000512299.1:n.*607A>C
ENST00000695973.1:c.*1894A>C	ENSP00000512300.1:n.*1894A>C
ENST00000695974.1:c.3353A>C	ENSP00000512301.1:p.Tyr1118Ser
ENST00000695975.1:c.*1657A>C	ENSP00000512302.1:n.*1657A>C
ENST00000695976.1:c.3341A>C	ENSP00000512303.1:p.Tyr1114Ser
ENST00000695981.1:c.3530A>C	ENSP00000512306.1:p.Tyr1177Ser
ENST00000695984.1:c.1538A>C	ENSP00000512309.1:p.Tyr513Ser
ENST00000695986.1:c.*3181A>C	ENSP00000512311.1:n.*3181A>C
ENST00000695990.1:n.564A>C
ENST00000696026.1:c.*1812A>C	ENSP00000512335.1:n.*1812A>C
ENST00000696027.1:c.3524A>C	ENSP00000512336.1:p.Tyr1175Ser
ENST00000696028.1:c.3458A>C	ENSP00000512337.1:p.Tyr1153Ser
ENST00000696029.1:c.3524A>C	ENSP00000512338.1:p.Tyr1175Ser
ENST00000696031.1:c.*3048A>C	ENSP00000512340.1:n.*3048A>C
ENST00000696032.1:c.3530A>C	ENSP00000512341.1:p.Tyr1177Ser
ENST00000696033.1:c.1160-32650A>C	ENSP00000512342.1:n.1160-32650A>C
ENST00000367429.9:c.3530A>C MANE Select	ENSP00000356399.4:p.Tyr1177Ser
ENST00000367429.8:c.3530A>C	ENSP00000356399.4:p.Tyr1177Ser
ENST00000466229.5:n.6628A>C
NM_000186.3:c.3530A>C , LRG_47t1:c.3530A>C	NP_000177.2:p.Tyr1177Ser
XR_001737134.2:n.3716A>C
NM_000186.4:c.3530A>C MANE Select	NP_000177.2:p.Tyr1177Ser