Canonical Allele Identifier: CA343988109

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716370C>A (hg19) ; chr1:g.196747240C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747240C>A , CM000663.2:g.196747240C>A	GRCh38
NC_000001.10:g.196716370C>A , CM000663.1:g.196716370C>A	GRCh37
NC_000001.9:g.194982993C>A	NCBI36
NG_007259.1:g.100230C>A , LRG_47:g.100230C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4651C>A
ENST00000695970.1:c.3449C>A	ENSP00000512297.1:p.Ser1150Ter
ENST00000695971.1:c.3602C>A	ENSP00000512298.1:p.Ser1201Ter
ENST00000695972.1:c.*700C>A	ENSP00000512299.1:n.*700C>A
ENST00000695973.1:c.*1987C>A	ENSP00000512300.1:n.*1987C>A
ENST00000695974.1:c.3446C>A	ENSP00000512301.1:p.Ser1149Ter
ENST00000695975.1:c.*1750C>A	ENSP00000512302.1:n.*1750C>A
ENST00000695976.1:c.3434C>A	ENSP00000512303.1:p.Ser1145Ter
ENST00000695981.1:c.3580+43C>A	ENSP00000512306.1:n.3580+43C>A
ENST00000695984.1:c.1631C>A	ENSP00000512309.1:p.Ser544Ter
ENST00000695986.1:c.*3274C>A	ENSP00000512311.1:n.*3274C>A
ENST00000695990.1:n.657C>A
ENST00000696026.1:c.*1905C>A	ENSP00000512335.1:n.*1905C>A
ENST00000696027.1:c.3617C>A	ENSP00000512336.1:p.Ser1206Ter
ENST00000696028.1:c.3551C>A	ENSP00000512337.1:p.Ser1184Ter
ENST00000696029.1:c.3617C>A	ENSP00000512338.1:p.Ser1206Ter
ENST00000696031.1:c.*3141C>A	ENSP00000512340.1:n.*3141C>A
ENST00000696032.1:c.3580+43C>A	ENSP00000512341.1:n.3580+43C>A
ENST00000696033.1:c.1160-32557C>A	ENSP00000512342.1:n.1160-32557C>A
ENST00000367429.9:c.3623C>A MANE Select	ENSP00000356399.4:p.Ser1208Ter
ENST00000367429.8:c.3623C>A	ENSP00000356399.4:p.Ser1208Ter
ENST00000466229.5:n.6721C>A
NM_000186.3:c.3623C>A , LRG_47t1:c.3623C>A	NP_000177.2:p.Ser1208Ter
XR_001737134.2:n.3809C>A
NM_000186.4:c.3623C>A MANE Select	NP_000177.2:p.Ser1208Ter