Canonical Allele Identifier: CA343983128

Gene: CFH

Linked Data

• gnomAD v4: 1-196743485-A-G
• MyVariant Identifiers: chr1:g.196712615A>G (hg19) ; chr1:g.196743485A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743485A>G , CM000663.2:g.196743485A>G	GRCh38
NC_000001.10:g.196712615A>G , CM000663.1:g.196712615A>G	GRCh37
NC_000001.9:g.194979238A>G	NCBI36
NG_007259.1:g.96475A>G , LRG_47:g.96475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4195A>G
ENST00000695970.1:c.2993A>G	ENSP00000512297.1:p.Asn998Ser
ENST00000695971.1:c.3146A>G	ENSP00000512298.1:p.Asn1049Ser
ENST00000695972.1:c.*244A>G	ENSP00000512299.1:n.*244A>G
ENST00000695973.1:c.*1531A>G	ENSP00000512300.1:n.*1531A>G
ENST00000695974.1:c.2990A>G	ENSP00000512301.1:p.Asn997Ser
ENST00000695975.1:c.*1294A>G	ENSP00000512302.1:n.*1294A>G
ENST00000695976.1:c.2978A>G	ENSP00000512303.1:p.Asn993Ser
ENST00000695981.1:c.3167A>G	ENSP00000512306.1:p.Asn1056Ser
ENST00000695984.1:c.1175A>G	ENSP00000512309.1:p.Asn392Ser
ENST00000695986.1:c.*2818A>G	ENSP00000512311.1:n.*2818A>G
ENST00000696026.1:c.*1449A>G	ENSP00000512335.1:n.*1449A>G
ENST00000696027.1:c.3161A>G	ENSP00000512336.1:p.Asn1054Ser
ENST00000696028.1:c.3095A>G	ENSP00000512337.1:p.Asn1032Ser
ENST00000696029.1:c.3161A>G	ENSP00000512338.1:p.Asn1054Ser
ENST00000696031.1:c.*2685A>G	ENSP00000512340.1:n.*2685A>G
ENST00000696032.1:c.3167A>G	ENSP00000512341.1:p.Asn1056Ser
ENST00000696033.1:c.1160-36312A>G	ENSP00000512342.1:n.1160-36312A>G
ENST00000367429.9:c.3167A>G MANE Select	ENSP00000356399.4:p.Asn1056Ser
ENST00000367429.8:c.3167A>G	ENSP00000356399.4:p.Asn1056Ser
ENST00000466229.5:n.6265A>G
NM_000186.3:c.3167A>G , LRG_47t1:c.3167A>G	NP_000177.2:p.Asn1056Ser
XR_001737134.2:n.3353A>G
NM_000186.4:c.3167A>G MANE Select	NP_000177.2:p.Asn1056Ser