Canonical Allele Identifier: CA343989143

Gene: CFH

Linked Data

• gnomAD v4: 1-196747272-T-C
• MyVariant Identifiers: chr1:g.196716402T>C (hg19) ; chr1:g.196747272T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747272T>C , CM000663.2:g.196747272T>C	GRCh38
NC_000001.10:g.196716402T>C , CM000663.1:g.196716402T>C	GRCh37
NC_000001.9:g.194983025T>C	NCBI36
NG_007259.1:g.100262T>C , LRG_47:g.100262T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4683T>C
ENST00000695970.1:c.3481T>C	ENSP00000512297.1:p.Trp1161Arg
ENST00000695971.1:c.3634T>C	ENSP00000512298.1:p.Trp1212Arg
ENST00000695972.1:c.*732T>C	ENSP00000512299.1:n.*732T>C
ENST00000695973.1:c.*2019T>C	ENSP00000512300.1:n.*2019T>C
ENST00000695974.1:c.3478T>C	ENSP00000512301.1:p.Trp1160Arg
ENST00000695975.1:c.*1782T>C	ENSP00000512302.1:n.*1782T>C
ENST00000695976.1:c.3466T>C	ENSP00000512303.1:p.Trp1156Arg
ENST00000695981.1:c.3580+75T>C	ENSP00000512306.1:n.3580+75T>C
ENST00000695984.1:c.1663T>C	ENSP00000512309.1:p.Trp555Arg
ENST00000695986.1:c.*3306T>C	ENSP00000512311.1:n.*3306T>C
ENST00000695990.1:n.689T>C
ENST00000696026.1:c.*1937T>C	ENSP00000512335.1:n.*1937T>C
ENST00000696027.1:c.3649T>C	ENSP00000512336.1:p.Trp1217Arg
ENST00000696028.1:c.3583T>C	ENSP00000512337.1:p.Trp1195Arg
ENST00000696029.1:c.3649T>C	ENSP00000512338.1:p.Trp1217Arg
ENST00000696031.1:c.*3173T>C	ENSP00000512340.1:n.*3173T>C
ENST00000696032.1:c.3580+75T>C	ENSP00000512341.1:n.3580+75T>C
ENST00000696033.1:c.1160-32525T>C	ENSP00000512342.1:n.1160-32525T>C
ENST00000367429.9:c.3655T>C MANE Select	ENSP00000356399.4:p.Trp1219Arg
ENST00000367429.8:c.3655T>C	ENSP00000356399.4:p.Trp1219Arg
ENST00000466229.5:n.6753T>C
NM_000186.3:c.3655T>C , LRG_47t1:c.3655T>C	NP_000177.2:p.Trp1219Arg
XR_001737134.2:n.3841T>C
NM_000186.4:c.3655T>C MANE Select	NP_000177.2:p.Trp1219Arg