Canonical Allele Identifier: CA343983227

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712630C>A (hg19) ; chr1:g.196743500C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743500C>A , CM000663.2:g.196743500C>A	GRCh38
NC_000001.10:g.196712630C>A , CM000663.1:g.196712630C>A	GRCh37
NC_000001.9:g.194979253C>A	NCBI36
NG_007259.1:g.96490C>A , LRG_47:g.96490C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4210C>A
ENST00000695970.1:c.3008C>A	ENSP00000512297.1:p.Ser1003Ter
ENST00000695971.1:c.3161C>A	ENSP00000512298.1:p.Ser1054Ter
ENST00000695972.1:c.*259C>A	ENSP00000512299.1:n.*259C>A
ENST00000695973.1:c.*1546C>A	ENSP00000512300.1:n.*1546C>A
ENST00000695974.1:c.3005C>A	ENSP00000512301.1:p.Ser1002Ter
ENST00000695975.1:c.*1309C>A	ENSP00000512302.1:n.*1309C>A
ENST00000695976.1:c.2993C>A	ENSP00000512303.1:p.Ser998Ter
ENST00000695981.1:c.3182C>A	ENSP00000512306.1:p.Ser1061Ter
ENST00000695984.1:c.1190C>A	ENSP00000512309.1:p.Ser397Ter
ENST00000695986.1:c.*2833C>A	ENSP00000512311.1:n.*2833C>A
ENST00000696026.1:c.*1464C>A	ENSP00000512335.1:n.*1464C>A
ENST00000696027.1:c.3176C>A	ENSP00000512336.1:p.Ser1059Ter
ENST00000696028.1:c.3110C>A	ENSP00000512337.1:p.Ser1037Ter
ENST00000696029.1:c.3176C>A	ENSP00000512338.1:p.Ser1059Ter
ENST00000696031.1:c.*2700C>A	ENSP00000512340.1:n.*2700C>A
ENST00000696032.1:c.3182C>A	ENSP00000512341.1:p.Ser1061Ter
ENST00000696033.1:c.1160-36297C>A	ENSP00000512342.1:n.1160-36297C>A
ENST00000367429.9:c.3182C>A MANE Select	ENSP00000356399.4:p.Ser1061Ter
ENST00000367429.8:c.3182C>A	ENSP00000356399.4:p.Ser1061Ter
ENST00000466229.5:n.6280C>A
NM_000186.3:c.3182C>A , LRG_47t1:c.3182C>A	NP_000177.2:p.Ser1061Ter
XR_001737134.2:n.3368C>A
NM_000186.4:c.3182C>A MANE Select	NP_000177.2:p.Ser1061Ter