Canonical Allele Identifier: CA343983393

Gene: CFH

Linked Data

• dbSNP Id: rs1346968696
• gnomAD v2: 1-196712646-A-C
• gnomAD v3: 1-196743516-A-C
• gnomAD v4: 1-196743516-A-C
• MyVariant Identifiers: chr1:g.196712646A>C (hg19) ; chr1:g.196743516A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743516A>C , CM000663.2:g.196743516A>C	GRCh38
NC_000001.10:g.196712646A>C , CM000663.1:g.196712646A>C	GRCh37
NC_000001.9:g.194979269A>C	NCBI36
NG_007259.1:g.96506A>C , LRG_47:g.96506A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4226A>C
ENST00000695970.1:c.3024A>C	ENSP00000512297.1:p.Lys1008Asn
ENST00000695971.1:c.3177A>C	ENSP00000512298.1:p.Lys1059Asn
ENST00000695972.1:c.*275A>C	ENSP00000512299.1:n.*275A>C
ENST00000695973.1:c.*1562A>C	ENSP00000512300.1:n.*1562A>C
ENST00000695974.1:c.3021A>C	ENSP00000512301.1:p.Lys1007Asn
ENST00000695975.1:c.*1325A>C	ENSP00000512302.1:n.*1325A>C
ENST00000695976.1:c.3009A>C	ENSP00000512303.1:p.Lys1003Asn
ENST00000695981.1:c.3198A>C	ENSP00000512306.1:p.Lys1066Asn
ENST00000695984.1:c.1206A>C	ENSP00000512309.1:p.Lys402Asn
ENST00000695986.1:c.*2849A>C	ENSP00000512311.1:n.*2849A>C
ENST00000696026.1:c.*1480A>C	ENSP00000512335.1:n.*1480A>C
ENST00000696027.1:c.3192A>C	ENSP00000512336.1:p.Lys1064Asn
ENST00000696028.1:c.3126A>C	ENSP00000512337.1:p.Lys1042Asn
ENST00000696029.1:c.3192A>C	ENSP00000512338.1:p.Lys1064Asn
ENST00000696031.1:c.*2716A>C	ENSP00000512340.1:n.*2716A>C
ENST00000696032.1:c.3198A>C	ENSP00000512341.1:p.Lys1066Asn
ENST00000696033.1:c.1160-36281A>C	ENSP00000512342.1:n.1160-36281A>C
ENST00000367429.9:c.3198A>C MANE Select	ENSP00000356399.4:p.Lys1066Asn
ENST00000367429.8:c.3198A>C	ENSP00000356399.4:p.Lys1066Asn
ENST00000466229.5:n.6296A>C
NM_000186.3:c.3198A>C , LRG_47t1:c.3198A>C	NP_000177.2:p.Lys1066Asn
XR_001737134.2:n.3384A>C
NM_000186.4:c.3198A>C MANE Select	NP_000177.2:p.Lys1066Asn