Canonical Allele Identifier: CA343982715

Gene: CFH

Linked Data

• COSMIC: COSM4468253
• MyVariant Identifiers: chr1:g.196684737C>T (hg19) ; chr1:g.196715607C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715607C>T , CM000663.2:g.196715607C>T	GRCh38
NC_000001.10:g.196684737C>T , CM000663.1:g.196684737C>T	GRCh37
NC_000001.9:g.194951360C>T	NCBI36
NG_007259.1:g.68597C>T , LRG_47:g.68597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1800C>T
ENST00000695969.1:c.1534C>T	ENSP00000512296.1:p.Pro512Ser
ENST00000695970.1:c.1534C>T	ENSP00000512297.1:p.Pro512Ser
ENST00000695971.1:c.1513C>T	ENSP00000512298.1:p.Pro505Ser
ENST00000695972.1:c.1534C>T	ENSP00000512299.1:p.Pro512Ser
ENST00000695973.1:c.1534C>T	ENSP00000512300.1:p.Pro512Ser
ENST00000695974.1:c.1534C>T	ENSP00000512301.1:p.Pro512Ser
ENST00000695975.1:c.1534C>T	ENSP00000512302.1:p.Pro512Ser
ENST00000695976.1:c.1345C>T	ENSP00000512303.1:p.Pro449Ser
ENST00000695981.1:c.1534C>T	ENSP00000512306.1:p.Pro512Ser
ENST00000695983.1:c.1534C>T	ENSP00000512308.1:p.Pro512Ser
ENST00000695984.1:c.245-12739C>T	ENSP00000512309.1:n.245-12739C>T
ENST00000695986.1:c.*1185C>T	ENSP00000512311.1:n.*1185C>T
ENST00000696024.1:n.1618C>T
ENST00000696025.1:n.1618C>T
ENST00000696026.1:c.1534C>T	ENSP00000512335.1:p.Pro512Ser
ENST00000696027.1:c.1534C>T	ENSP00000512336.1:p.Pro512Ser
ENST00000696028.1:c.1534C>T	ENSP00000512337.1:p.Pro512Ser
ENST00000696029.1:c.1534C>T	ENSP00000512338.1:p.Pro512Ser
ENST00000696031.1:c.*1052C>T	ENSP00000512340.1:n.*1052C>T
ENST00000696032.1:c.1534C>T	ENSP00000512341.1:p.Pro512Ser
ENST00000696033.1:c.1159+25993C>T	ENSP00000512342.1:n.1159+25993C>T
ENST00000367429.9:c.1534C>T MANE Select	ENSP00000356399.4:p.Pro512Ser
ENST00000367429.8:c.1534C>T	ENSP00000356399.4:p.Pro512Ser
ENST00000466229.5:n.3550C>T
NM_000186.3:c.1534C>T , LRG_47t1:c.1534C>T	NP_000177.2:p.Pro512Ser
XR_001737134.2:n.1619C>T
NM_000186.4:c.1534C>T MANE Select	NP_000177.2:p.Pro512Ser