Canonical Allele Identifier: CA343983859

Gene: CFH

Linked Data

• gnomAD v4: 1-196743572-G-C
• MyVariant Identifiers: chr1:g.196712702G>C (hg19) ; chr1:g.196743572G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743572G>C , CM000663.2:g.196743572G>C	GRCh38
NC_000001.10:g.196712702G>C , CM000663.1:g.196712702G>C	GRCh37
NC_000001.9:g.194979325G>C	NCBI36
NG_007259.1:g.96562G>C , LRG_47:g.96562G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4282G>C
ENST00000695970.1:c.3080G>C	ENSP00000512297.1:p.Gly1027Ala
ENST00000695971.1:c.3233G>C	ENSP00000512298.1:p.Gly1078Ala
ENST00000695972.1:c.*331G>C	ENSP00000512299.1:n.*331G>C
ENST00000695973.1:c.*1618G>C	ENSP00000512300.1:n.*1618G>C
ENST00000695974.1:c.3077G>C	ENSP00000512301.1:p.Gly1026Ala
ENST00000695975.1:c.*1381G>C	ENSP00000512302.1:n.*1381G>C
ENST00000695976.1:c.3065G>C	ENSP00000512303.1:p.Gly1022Ala
ENST00000695981.1:c.3254G>C	ENSP00000512306.1:p.Gly1085Ala
ENST00000695984.1:c.1262G>C	ENSP00000512309.1:p.Gly421Ala
ENST00000695986.1:c.*2905G>C	ENSP00000512311.1:n.*2905G>C
ENST00000696026.1:c.*1536G>C	ENSP00000512335.1:n.*1536G>C
ENST00000696027.1:c.3248G>C	ENSP00000512336.1:p.Gly1083Ala
ENST00000696028.1:c.3182G>C	ENSP00000512337.1:p.Gly1061Ala
ENST00000696029.1:c.3248G>C	ENSP00000512338.1:p.Gly1083Ala
ENST00000696031.1:c.*2772G>C	ENSP00000512340.1:n.*2772G>C
ENST00000696032.1:c.3254G>C	ENSP00000512341.1:p.Gly1085Ala
ENST00000696033.1:c.1160-36225G>C	ENSP00000512342.1:n.1160-36225G>C
ENST00000367429.9:c.3254G>C MANE Select	ENSP00000356399.4:p.Gly1085Ala
ENST00000367429.8:c.3254G>C	ENSP00000356399.4:p.Gly1085Ala
ENST00000466229.5:n.6352G>C
NM_000186.3:c.3254G>C , LRG_47t1:c.3254G>C	NP_000177.2:p.Gly1085Ala
XR_001737134.2:n.3440G>C
NM_000186.4:c.3254G>C MANE Select	NP_000177.2:p.Gly1085Ala