Canonical Allele Identifier: CA343984028

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712734T>C (hg19) ; chr1:g.196743604T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743604T>C , CM000663.2:g.196743604T>C	GRCh38
NC_000001.10:g.196712734T>C , CM000663.1:g.196712734T>C	GRCh37
NC_000001.9:g.194979357T>C	NCBI36
NG_007259.1:g.96594T>C , LRG_47:g.96594T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4314T>C
ENST00000695970.1:c.3112T>C	ENSP00000512297.1:p.Trp1038Arg
ENST00000695971.1:c.3265T>C	ENSP00000512298.1:p.Trp1089Arg
ENST00000695972.1:c.*363T>C	ENSP00000512299.1:n.*363T>C
ENST00000695973.1:c.*1650T>C	ENSP00000512300.1:n.*1650T>C
ENST00000695974.1:c.3109T>C	ENSP00000512301.1:p.Trp1037Arg
ENST00000695975.1:c.*1413T>C	ENSP00000512302.1:n.*1413T>C
ENST00000695976.1:c.3097T>C	ENSP00000512303.1:p.Trp1033Arg
ENST00000695981.1:c.3286T>C	ENSP00000512306.1:p.Trp1096Arg
ENST00000695984.1:c.1294T>C	ENSP00000512309.1:p.Trp432Arg
ENST00000695986.1:c.*2937T>C	ENSP00000512311.1:n.*2937T>C
ENST00000696026.1:c.*1568T>C	ENSP00000512335.1:n.*1568T>C
ENST00000696027.1:c.3280T>C	ENSP00000512336.1:p.Trp1094Arg
ENST00000696028.1:c.3214T>C	ENSP00000512337.1:p.Trp1072Arg
ENST00000696029.1:c.3280T>C	ENSP00000512338.1:p.Trp1094Arg
ENST00000696031.1:c.*2804T>C	ENSP00000512340.1:n.*2804T>C
ENST00000696032.1:c.3286T>C	ENSP00000512341.1:p.Trp1096Arg
ENST00000696033.1:c.1160-36193T>C	ENSP00000512342.1:n.1160-36193T>C
ENST00000367429.9:c.3286T>C MANE Select	ENSP00000356399.4:p.Trp1096Arg
ENST00000367429.8:c.3286T>C	ENSP00000356399.4:p.Trp1096Arg
ENST00000466229.5:n.6384T>C
NM_000186.3:c.3286T>C , LRG_47t1:c.3286T>C	NP_000177.2:p.Trp1096Arg
XR_001737134.2:n.3472T>C
NM_000186.4:c.3286T>C MANE Select	NP_000177.2:p.Trp1096Arg