Canonical Allele Identifier: CA343983418

Gene: CFH

Linked Data

• gnomAD v4: 1-196743520-C-A
• MyVariant Identifiers: chr1:g.196712650C>A (hg19) ; chr1:g.196743520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743520C>A , CM000663.2:g.196743520C>A	GRCh38
NC_000001.10:g.196712650C>A , CM000663.1:g.196712650C>A	GRCh37
NC_000001.9:g.194979273C>A	NCBI36
NG_007259.1:g.96510C>A , LRG_47:g.96510C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4230C>A
ENST00000695970.1:c.3028C>A	ENSP00000512297.1:p.Pro1010Thr
ENST00000695971.1:c.3181C>A	ENSP00000512298.1:p.Pro1061Thr
ENST00000695972.1:c.*279C>A	ENSP00000512299.1:n.*279C>A
ENST00000695973.1:c.*1566C>A	ENSP00000512300.1:n.*1566C>A
ENST00000695974.1:c.3025C>A	ENSP00000512301.1:p.Pro1009Thr
ENST00000695975.1:c.*1329C>A	ENSP00000512302.1:n.*1329C>A
ENST00000695976.1:c.3013C>A	ENSP00000512303.1:p.Pro1005Thr
ENST00000695981.1:c.3202C>A	ENSP00000512306.1:p.Pro1068Thr
ENST00000695984.1:c.1210C>A	ENSP00000512309.1:p.Pro404Thr
ENST00000695986.1:c.*2853C>A	ENSP00000512311.1:n.*2853C>A
ENST00000696026.1:c.*1484C>A	ENSP00000512335.1:n.*1484C>A
ENST00000696027.1:c.3196C>A	ENSP00000512336.1:p.Pro1066Thr
ENST00000696028.1:c.3130C>A	ENSP00000512337.1:p.Pro1044Thr
ENST00000696029.1:c.3196C>A	ENSP00000512338.1:p.Pro1066Thr
ENST00000696031.1:c.*2720C>A	ENSP00000512340.1:n.*2720C>A
ENST00000696032.1:c.3202C>A	ENSP00000512341.1:p.Pro1068Thr
ENST00000696033.1:c.1160-36277C>A	ENSP00000512342.1:n.1160-36277C>A
ENST00000367429.9:c.3202C>A MANE Select	ENSP00000356399.4:p.Pro1068Thr
ENST00000367429.8:c.3202C>A	ENSP00000356399.4:p.Pro1068Thr
ENST00000466229.5:n.6300C>A
NM_000186.3:c.3202C>A , LRG_47t1:c.3202C>A	NP_000177.2:p.Pro1068Thr
XR_001737134.2:n.3388C>A
NM_000186.4:c.3202C>A MANE Select	NP_000177.2:p.Pro1068Thr