Canonical Allele Identifier: CA343987364

Gene: CFH

Linked Data

• gnomAD v4: 1-196747160-A-C
• MyVariant Identifiers: chr1:g.196716290A>C (hg19) ; chr1:g.196747160A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747160A>C , CM000663.2:g.196747160A>C	GRCh38
NC_000001.10:g.196716290A>C , CM000663.1:g.196716290A>C	GRCh37
NC_000001.9:g.194982913A>C	NCBI36
NG_007259.1:g.100150A>C , LRG_47:g.100150A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4571A>C
ENST00000695970.1:c.3369A>C	ENSP00000512297.1:p.Leu1123Phe
ENST00000695971.1:c.3522A>C	ENSP00000512298.1:p.Leu1174Phe
ENST00000695972.1:c.*620A>C	ENSP00000512299.1:n.*620A>C
ENST00000695973.1:c.*1907A>C	ENSP00000512300.1:n.*1907A>C
ENST00000695974.1:c.3366A>C	ENSP00000512301.1:p.Leu1122Phe
ENST00000695975.1:c.*1670A>C	ENSP00000512302.1:n.*1670A>C
ENST00000695976.1:c.3354A>C	ENSP00000512303.1:p.Leu1118Phe
ENST00000695981.1:c.3543A>C	ENSP00000512306.1:p.Leu1181Phe
ENST00000695984.1:c.1551A>C	ENSP00000512309.1:p.Leu517Phe
ENST00000695986.1:c.*3194A>C	ENSP00000512311.1:n.*3194A>C
ENST00000695990.1:n.577A>C
ENST00000696026.1:c.*1825A>C	ENSP00000512335.1:n.*1825A>C
ENST00000696027.1:c.3537A>C	ENSP00000512336.1:p.Leu1179Phe
ENST00000696028.1:c.3471A>C	ENSP00000512337.1:p.Leu1157Phe
ENST00000696029.1:c.3537A>C	ENSP00000512338.1:p.Leu1179Phe
ENST00000696031.1:c.*3061A>C	ENSP00000512340.1:n.*3061A>C
ENST00000696032.1:c.3543A>C	ENSP00000512341.1:p.Leu1181Phe
ENST00000696033.1:c.1160-32637A>C	ENSP00000512342.1:n.1160-32637A>C
ENST00000367429.9:c.3543A>C MANE Select	ENSP00000356399.4:p.Leu1181Phe
ENST00000367429.8:c.3543A>C	ENSP00000356399.4:p.Leu1181Phe
ENST00000466229.5:n.6641A>C
NM_000186.3:c.3543A>C , LRG_47t1:c.3543A>C	NP_000177.2:p.Leu1181Phe
XR_001737134.2:n.3729A>C
NM_000186.4:c.3543A>C MANE Select	NP_000177.2:p.Leu1181Phe