Canonical Allele Identifier: CA1305980

Gene: CFH

Linked Data

• dbSNP Id: rs749403509
• ExAC: 1:196716292 G / C
• gnomAD v2: 1-196716292-G-C
• MyVariant Identifiers: chr1:g.196716292G>C (hg19) ; chr1:g.196747162G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747162G>C , CM000663.2:g.196747162G>C	GRCh38
NC_000001.10:g.196716292G>C , CM000663.1:g.196716292G>C	GRCh37
NC_000001.9:g.194982915G>C	NCBI36
NG_007259.1:g.100152G>C , LRG_47:g.100152G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4573G>C
ENST00000695970.1:c.3371G>C	ENSP00000512297.1:p.Arg1124Thr
ENST00000695971.1:c.3524G>C	ENSP00000512298.1:p.Arg1175Thr
ENST00000695972.1:c.*622G>C	ENSP00000512299.1:n.*622G>C
ENST00000695973.1:c.*1909G>C	ENSP00000512300.1:n.*1909G>C
ENST00000695974.1:c.3368G>C	ENSP00000512301.1:p.Arg1123Thr
ENST00000695975.1:c.*1672G>C	ENSP00000512302.1:n.*1672G>C
ENST00000695976.1:c.3356G>C	ENSP00000512303.1:p.Arg1119Thr
ENST00000695981.1:c.3545G>C	ENSP00000512306.1:p.Arg1182Thr
ENST00000695984.1:c.1553G>C	ENSP00000512309.1:p.Arg518Thr
ENST00000695986.1:c.*3196G>C	ENSP00000512311.1:n.*3196G>C
ENST00000695990.1:n.579G>C
ENST00000696026.1:c.*1827G>C	ENSP00000512335.1:n.*1827G>C
ENST00000696027.1:c.3539G>C	ENSP00000512336.1:p.Arg1180Thr
ENST00000696028.1:c.3473G>C	ENSP00000512337.1:p.Arg1158Thr
ENST00000696029.1:c.3539G>C	ENSP00000512338.1:p.Arg1180Thr
ENST00000696031.1:c.*3063G>C	ENSP00000512340.1:n.*3063G>C
ENST00000696032.1:c.3545G>C	ENSP00000512341.1:p.Arg1182Thr
ENST00000696033.1:c.1160-32635G>C	ENSP00000512342.1:n.1160-32635G>C
ENST00000367429.9:c.3545G>C MANE Select	ENSP00000356399.4:p.Arg1182Thr
ENST00000367429.8:c.3545G>C	ENSP00000356399.4:p.Arg1182Thr
ENST00000466229.5:n.6643G>C
NM_000186.3:c.3545G>C , LRG_47t1:c.3545G>C	NP_000177.2:p.Arg1182Thr
XR_001737134.2:n.3731G>C
NM_000186.4:c.3545G>C MANE Select	NP_000177.2:p.Arg1182Thr