Canonical Allele Identifier: CA1305437

Gene: CFH

Linked Data

• dbSNP Id: rs750409718
• ExAC: 1:196684746 A / T
• gnomAD v2: 1-196684746-A-T
• gnomAD v4: 1-196715616-A-T
• MyVariant Identifiers: chr1:g.196684746A>T (hg19) ; chr1:g.196715616A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715616A>T , CM000663.2:g.196715616A>T	GRCh38
NC_000001.10:g.196684746A>T , CM000663.1:g.196684746A>T	GRCh37
NC_000001.9:g.194951369A>T	NCBI36
NG_007259.1:g.68606A>T , LRG_47:g.68606A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1809A>T
ENST00000695969.1:c.1543A>T	ENSP00000512296.1:p.Met515Leu
ENST00000695970.1:c.1543A>T	ENSP00000512297.1:p.Met515Leu
ENST00000695971.1:c.1522A>T	ENSP00000512298.1:p.Met508Leu
ENST00000695972.1:c.1543A>T	ENSP00000512299.1:p.Met515Leu
ENST00000695973.1:c.1543A>T	ENSP00000512300.1:p.Met515Leu
ENST00000695974.1:c.1543A>T	ENSP00000512301.1:p.Met515Leu
ENST00000695975.1:c.1543A>T	ENSP00000512302.1:p.Met515Leu
ENST00000695976.1:c.1354A>T	ENSP00000512303.1:p.Met452Leu
ENST00000695981.1:c.1543A>T	ENSP00000512306.1:p.Met515Leu
ENST00000695983.1:c.1543A>T	ENSP00000512308.1:p.Met515Leu
ENST00000695984.1:c.245-12730A>T	ENSP00000512309.1:n.245-12730A>T
ENST00000695986.1:c.*1194A>T	ENSP00000512311.1:n.*1194A>T
ENST00000696024.1:n.1627A>T
ENST00000696025.1:n.1627A>T
ENST00000696026.1:c.1543A>T	ENSP00000512335.1:p.Met515Leu
ENST00000696027.1:c.1543A>T	ENSP00000512336.1:p.Met515Leu
ENST00000696028.1:c.1543A>T	ENSP00000512337.1:p.Met515Leu
ENST00000696029.1:c.1543A>T	ENSP00000512338.1:p.Met515Leu
ENST00000696031.1:c.*1061A>T	ENSP00000512340.1:n.*1061A>T
ENST00000696032.1:c.1543A>T	ENSP00000512341.1:p.Met515Leu
ENST00000696033.1:c.1159+26002A>T	ENSP00000512342.1:n.1159+26002A>T
ENST00000367429.9:c.1543A>T MANE Select	ENSP00000356399.4:p.Met515Leu
ENST00000367429.8:c.1543A>T	ENSP00000356399.4:p.Met515Leu
ENST00000466229.5:n.3559A>T
NM_000186.3:c.1543A>T , LRG_47t1:c.1543A>T	NP_000177.2:p.Met515Leu
XR_001737134.2:n.1628A>T
NM_000186.4:c.1543A>T MANE Select	NP_000177.2:p.Met515Leu