Canonical Allele Identifier: CA1305872

Gene: CFH

Linked Data

• dbSNP Id: rs770492471
• ExAC: 1:196712642 G / C
• gnomAD v2: 1-196712642-G-C
• gnomAD v4: 1-196743512-G-C
• MyVariant Identifiers: chr1:g.196712642G>C (hg19) ; chr1:g.196743512G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743512G>C , CM000663.2:g.196743512G>C	GRCh38
NC_000001.10:g.196712642G>C , CM000663.1:g.196712642G>C	GRCh37
NC_000001.9:g.194979265G>C	NCBI36
NG_007259.1:g.96502G>C , LRG_47:g.96502G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4222G>C
ENST00000695970.1:c.3020G>C	ENSP00000512297.1:p.Ser1007Thr
ENST00000695971.1:c.3173G>C	ENSP00000512298.1:p.Ser1058Thr
ENST00000695972.1:c.*271G>C	ENSP00000512299.1:n.*271G>C
ENST00000695973.1:c.*1558G>C	ENSP00000512300.1:n.*1558G>C
ENST00000695974.1:c.3017G>C	ENSP00000512301.1:p.Ser1006Thr
ENST00000695975.1:c.*1321G>C	ENSP00000512302.1:n.*1321G>C
ENST00000695976.1:c.3005G>C	ENSP00000512303.1:p.Ser1002Thr
ENST00000695981.1:c.3194G>C	ENSP00000512306.1:p.Ser1065Thr
ENST00000695984.1:c.1202G>C	ENSP00000512309.1:p.Ser401Thr
ENST00000695986.1:c.*2845G>C	ENSP00000512311.1:n.*2845G>C
ENST00000696026.1:c.*1476G>C	ENSP00000512335.1:n.*1476G>C
ENST00000696027.1:c.3188G>C	ENSP00000512336.1:p.Ser1063Thr
ENST00000696028.1:c.3122G>C	ENSP00000512337.1:p.Ser1041Thr
ENST00000696029.1:c.3188G>C	ENSP00000512338.1:p.Ser1063Thr
ENST00000696031.1:c.*2712G>C	ENSP00000512340.1:n.*2712G>C
ENST00000696032.1:c.3194G>C	ENSP00000512341.1:p.Ser1065Thr
ENST00000696033.1:c.1160-36285G>C	ENSP00000512342.1:n.1160-36285G>C
ENST00000367429.9:c.3194G>C MANE Select	ENSP00000356399.4:p.Ser1065Thr
ENST00000367429.8:c.3194G>C	ENSP00000356399.4:p.Ser1065Thr
ENST00000466229.5:n.6292G>C
NM_000186.3:c.3194G>C , LRG_47t1:c.3194G>C	NP_000177.2:p.Ser1065Thr
XR_001737134.2:n.3380G>C
NM_000186.4:c.3194G>C MANE Select	NP_000177.2:p.Ser1065Thr