Canonical Allele Identifier: CA343984039

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712735G>C (hg19) ; chr1:g.196743605G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743605G>C , CM000663.2:g.196743605G>C	GRCh38
NC_000001.10:g.196712735G>C , CM000663.1:g.196712735G>C	GRCh37
NC_000001.9:g.194979358G>C	NCBI36
NG_007259.1:g.96595G>C , LRG_47:g.96595G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4315G>C
ENST00000695970.1:c.3113G>C	ENSP00000512297.1:p.Trp1038Ser
ENST00000695971.1:c.3266G>C	ENSP00000512298.1:p.Trp1089Ser
ENST00000695972.1:c.*364G>C	ENSP00000512299.1:n.*364G>C
ENST00000695973.1:c.*1651G>C	ENSP00000512300.1:n.*1651G>C
ENST00000695974.1:c.3110G>C	ENSP00000512301.1:p.Trp1037Ser
ENST00000695975.1:c.*1414G>C	ENSP00000512302.1:n.*1414G>C
ENST00000695976.1:c.3098G>C	ENSP00000512303.1:p.Trp1033Ser
ENST00000695981.1:c.3287G>C	ENSP00000512306.1:p.Trp1096Ser
ENST00000695984.1:c.1295G>C	ENSP00000512309.1:p.Trp432Ser
ENST00000695986.1:c.*2938G>C	ENSP00000512311.1:n.*2938G>C
ENST00000696026.1:c.*1569G>C	ENSP00000512335.1:n.*1569G>C
ENST00000696027.1:c.3281G>C	ENSP00000512336.1:p.Trp1094Ser
ENST00000696028.1:c.3215G>C	ENSP00000512337.1:p.Trp1072Ser
ENST00000696029.1:c.3281G>C	ENSP00000512338.1:p.Trp1094Ser
ENST00000696031.1:c.*2805G>C	ENSP00000512340.1:n.*2805G>C
ENST00000696032.1:c.3287G>C	ENSP00000512341.1:p.Trp1096Ser
ENST00000696033.1:c.1160-36192G>C	ENSP00000512342.1:n.1160-36192G>C
ENST00000367429.9:c.3287G>C MANE Select	ENSP00000356399.4:p.Trp1096Ser
ENST00000367429.8:c.3287G>C	ENSP00000356399.4:p.Trp1096Ser
ENST00000466229.5:n.6385G>C
NM_000186.3:c.3287G>C , LRG_47t1:c.3287G>C	NP_000177.2:p.Trp1096Ser
XR_001737134.2:n.3473G>C
NM_000186.4:c.3287G>C MANE Select	NP_000177.2:p.Trp1096Ser