Canonical Allele Identifier: CA35816171

Gene: CFH

Linked Data

• dbSNP Id: rs147478315
• gnomAD v2: 1-196716353-A-C
• gnomAD v3: 1-196747223-A-C
• gnomAD v4: 1-196747223-A-C
• MyVariant Identifiers: chr1:g.196716353A>C (hg19) ; chr1:g.196747223A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747223A>C , CM000663.2:g.196747223A>C	GRCh38
NC_000001.10:g.196716353A>C , CM000663.1:g.196716353A>C	GRCh37
NC_000001.9:g.194982976A>C	NCBI36
NG_007259.1:g.100213A>C , LRG_47:g.100213A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4634A>C
ENST00000695970.1:c.3432A>C	ENSP00000512297.1:p.Lys1144Asn
ENST00000695971.1:c.3585A>C	ENSP00000512298.1:p.Lys1195Asn
ENST00000695972.1:c.*683A>C	ENSP00000512299.1:n.*683A>C
ENST00000695973.1:c.*1970A>C	ENSP00000512300.1:n.*1970A>C
ENST00000695974.1:c.3429A>C	ENSP00000512301.1:p.Lys1143Asn
ENST00000695975.1:c.*1733A>C	ENSP00000512302.1:n.*1733A>C
ENST00000695976.1:c.3417A>C	ENSP00000512303.1:p.Lys1139Asn
ENST00000695981.1:c.3580+26A>C	ENSP00000512306.1:n.3580+26A>C
ENST00000695984.1:c.1614A>C	ENSP00000512309.1:p.Lys538Asn
ENST00000695986.1:c.*3257A>C	ENSP00000512311.1:n.*3257A>C
ENST00000695990.1:n.640A>C
ENST00000696026.1:c.*1888A>C	ENSP00000512335.1:n.*1888A>C
ENST00000696027.1:c.3600A>C	ENSP00000512336.1:p.Lys1200Asn
ENST00000696028.1:c.3534A>C	ENSP00000512337.1:p.Lys1178Asn
ENST00000696029.1:c.3600A>C	ENSP00000512338.1:p.Lys1200Asn
ENST00000696031.1:c.*3124A>C	ENSP00000512340.1:n.*3124A>C
ENST00000696032.1:c.3580+26A>C	ENSP00000512341.1:n.3580+26A>C
ENST00000696033.1:c.1160-32574A>C	ENSP00000512342.1:n.1160-32574A>C
ENST00000367429.9:c.3606A>C MANE Select	ENSP00000356399.4:p.Lys1202Asn
ENST00000367429.8:c.3606A>C	ENSP00000356399.4:p.Lys1202Asn
ENST00000466229.5:n.6704A>C
NM_000186.3:c.3606A>C , LRG_47t1:c.3606A>C	NP_000177.2:p.Lys1202Asn
XR_001737134.2:n.3792A>C
NM_000186.4:c.3606A>C MANE Select	NP_000177.2:p.Lys1202Asn