Canonical Allele Identifier: CA343981075

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196709816G>C (hg19) ; chr1:g.196740686G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196740686G>C , CM000663.2:g.196740686G>C	GRCh38
NC_000001.10:g.196709816G>C , CM000663.1:g.196709816G>C	GRCh37
NC_000001.9:g.194976439G>C	NCBI36
NG_007259.1:g.93676G>C , LRG_47:g.93676G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.3116G>C
ENST00000695970.1:c.2783-1189G>C	ENSP00000512297.1:n.2783-1189G>C
ENST00000695971.1:c.2829G>C	ENSP00000512298.1:p.Gln943His
ENST00000695972.1:c.2255G>C	ENSP00000512299.1:p.Ser752Thr
ENST00000695973.1:c.*1214G>C	ENSP00000512300.1:n.*1214G>C
ENST00000695974.1:c.2673G>C	ENSP00000512301.1:p.Gln891His
ENST00000695975.1:c.*977G>C	ENSP00000512302.1:n.*977G>C
ENST00000695976.1:c.2661G>C	ENSP00000512303.1:p.Gln887His
ENST00000695981.1:c.2850G>C	ENSP00000512306.1:p.Gln950His
ENST00000695983.1:c.2850G>C	ENSP00000512308.1:p.Gln950His
ENST00000695984.1:c.858G>C	ENSP00000512309.1:p.Gln286His
ENST00000695986.1:c.*2501G>C	ENSP00000512311.1:n.*2501G>C
ENST00000696025.1:n.2934G>C
ENST00000696026.1:c.*1132G>C	ENSP00000512335.1:n.*1132G>C
ENST00000696027.1:c.2844G>C	ENSP00000512336.1:p.Gln948His
ENST00000696028.1:c.2850G>C	ENSP00000512337.1:p.Gln950His
ENST00000696029.1:c.2850G>C	ENSP00000512338.1:p.Gln950His
ENST00000696031.1:c.*2368G>C	ENSP00000512340.1:n.*2368G>C
ENST00000696032.1:c.2850G>C	ENSP00000512341.1:p.Gln950His
ENST00000696033.1:c.1160-39111G>C	ENSP00000512342.1:n.1160-39111G>C
ENST00000367429.9:c.2850G>C MANE Select	ENSP00000356399.4:p.Gln950His
ENST00000367429.8:c.2850G>C	ENSP00000356399.4:p.Gln950His
ENST00000466229.5:n.4866G>C
ENST00000470918.1:n.353G>C
NM_000186.3:c.2850G>C , LRG_47t1:c.2850G>C	NP_000177.2:p.Gln950His
XR_001737134.2:n.3036G>C
NM_000186.4:c.2850G>C MANE Select	NP_000177.2:p.Gln950His