Canonical Allele Identifier: CA343982759

Gene: CFH

Linked Data

• dbSNP Id: rs1668851760
• MyVariant Identifiers: chr1:g.196684749A>C (hg19) ; chr1:g.196715619A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715619A>C , CM000663.2:g.196715619A>C	GRCh38
NC_000001.10:g.196684749A>C , CM000663.1:g.196684749A>C	GRCh37
NC_000001.9:g.194951372A>C	NCBI36
NG_007259.1:g.68609A>C , LRG_47:g.68609A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1812A>C
ENST00000695969.1:c.1546A>C	ENSP00000512296.1:p.Asn516His
ENST00000695970.1:c.1546A>C	ENSP00000512297.1:p.Asn516His
ENST00000695971.1:c.1525A>C	ENSP00000512298.1:p.Asn509His
ENST00000695972.1:c.1546A>C	ENSP00000512299.1:p.Asn516His
ENST00000695973.1:c.1546A>C	ENSP00000512300.1:p.Asn516His
ENST00000695974.1:c.1546A>C	ENSP00000512301.1:p.Asn516His
ENST00000695975.1:c.1546A>C	ENSP00000512302.1:p.Asn516His
ENST00000695976.1:c.1357A>C	ENSP00000512303.1:p.Asn453His
ENST00000695981.1:c.1546A>C	ENSP00000512306.1:p.Asn516His
ENST00000695983.1:c.1546A>C	ENSP00000512308.1:p.Asn516His
ENST00000695984.1:c.245-12727A>C	ENSP00000512309.1:n.245-12727A>C
ENST00000695986.1:c.*1197A>C	ENSP00000512311.1:n.*1197A>C
ENST00000696024.1:n.1630A>C
ENST00000696025.1:n.1630A>C
ENST00000696026.1:c.1546A>C	ENSP00000512335.1:p.Asn516His
ENST00000696027.1:c.1546A>C	ENSP00000512336.1:p.Asn516His
ENST00000696028.1:c.1546A>C	ENSP00000512337.1:p.Asn516His
ENST00000696029.1:c.1546A>C	ENSP00000512338.1:p.Asn516His
ENST00000696031.1:c.*1064A>C	ENSP00000512340.1:n.*1064A>C
ENST00000696032.1:c.1546A>C	ENSP00000512341.1:p.Asn516His
ENST00000696033.1:c.1159+26005A>C	ENSP00000512342.1:n.1159+26005A>C
ENST00000367429.9:c.1546A>C MANE Select	ENSP00000356399.4:p.Asn516His
ENST00000367429.8:c.1546A>C	ENSP00000356399.4:p.Asn516His
ENST00000466229.5:n.3562A>C
NM_000186.3:c.1546A>C , LRG_47t1:c.1546A>C	NP_000177.2:p.Asn516His
XR_001737134.2:n.1631A>C
NM_000186.4:c.1546A>C MANE Select	NP_000177.2:p.Asn516His