Canonical Allele Identifier: CA343983293

Gene: CFH

Linked Data

• gnomAD v4: 1-196743506-A-C
• MyVariant Identifiers: chr1:g.196712636A>C (hg19) ; chr1:g.196743506A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743506A>C , CM000663.2:g.196743506A>C	GRCh38
NC_000001.10:g.196712636A>C , CM000663.1:g.196712636A>C	GRCh37
NC_000001.9:g.194979259A>C	NCBI36
NG_007259.1:g.96496A>C , LRG_47:g.96496A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4216A>C
ENST00000695970.1:c.3014A>C	ENSP00000512297.1:p.Gln1005Pro
ENST00000695971.1:c.3167A>C	ENSP00000512298.1:p.Gln1056Pro
ENST00000695972.1:c.*265A>C	ENSP00000512299.1:n.*265A>C
ENST00000695973.1:c.*1552A>C	ENSP00000512300.1:n.*1552A>C
ENST00000695974.1:c.3011A>C	ENSP00000512301.1:p.Gln1004Pro
ENST00000695975.1:c.*1315A>C	ENSP00000512302.1:n.*1315A>C
ENST00000695976.1:c.2999A>C	ENSP00000512303.1:p.Gln1000Pro
ENST00000695981.1:c.3188A>C	ENSP00000512306.1:p.Gln1063Pro
ENST00000695984.1:c.1196A>C	ENSP00000512309.1:p.Gln399Pro
ENST00000695986.1:c.*2839A>C	ENSP00000512311.1:n.*2839A>C
ENST00000696026.1:c.*1470A>C	ENSP00000512335.1:n.*1470A>C
ENST00000696027.1:c.3182A>C	ENSP00000512336.1:p.Gln1061Pro
ENST00000696028.1:c.3116A>C	ENSP00000512337.1:p.Gln1039Pro
ENST00000696029.1:c.3182A>C	ENSP00000512338.1:p.Gln1061Pro
ENST00000696031.1:c.*2706A>C	ENSP00000512340.1:n.*2706A>C
ENST00000696032.1:c.3188A>C	ENSP00000512341.1:p.Gln1063Pro
ENST00000696033.1:c.1160-36291A>C	ENSP00000512342.1:n.1160-36291A>C
ENST00000367429.9:c.3188A>C MANE Select	ENSP00000356399.4:p.Gln1063Pro
ENST00000367429.8:c.3188A>C	ENSP00000356399.4:p.Gln1063Pro
ENST00000466229.5:n.6286A>C
NM_000186.3:c.3188A>C , LRG_47t1:c.3188A>C	NP_000177.2:p.Gln1063Pro
XR_001737134.2:n.3374A>C
NM_000186.4:c.3188A>C MANE Select	NP_000177.2:p.Gln1063Pro