Canonical Allele Identifier: CA1305781

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196740780C>T , CM000663.2:g.196740780C>T	GRCh38
NC_000001.10:g.196709910C>T , CM000663.1:g.196709910C>T	GRCh37
NC_000001.9:g.194976533C>T	NCBI36
NG_007259.1:g.93770C>T , LRG_47:g.93770C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000186.4:c.2944C>T MANE Select	NP_000177.2:p.Pro982Ser
ENST00000367429.9:c.2944C>T MANE Select	ENSP00000356399.4:p.Pro982Ser
NM_000186.3:c.2944C>T , LRG_47t1:c.2944C>T	NP_000177.2:p.Pro982Ser
ENST00000367429.8:c.2944C>T	ENSP00000356399.4:p.Pro982Ser
ENST00000466229.5:n.4960C>T
ENST00000470918.1:n.447C>T
ENST00000470918.2:n.3210C>T
ENST00000695970.1:c.2783-1095C>T	ENSP00000512297.1:n.2783-1095C>T
ENST00000695971.1:c.2923C>T	ENSP00000512298.1:p.Pro975Ser
ENST00000695972.1:c.*21C>T	ENSP00000512299.1:n.*21C>T
ENST00000695973.1:c.*1308C>T	ENSP00000512300.1:n.*1308C>T
ENST00000695974.1:c.2767C>T	ENSP00000512301.1:p.Pro923Ser
ENST00000695975.1:c.*1071C>T	ENSP00000512302.1:n.*1071C>T
ENST00000695976.1:c.2755C>T	ENSP00000512303.1:p.Pro919Ser
ENST00000695981.1:c.2944C>T	ENSP00000512306.1:p.Pro982Ser
ENST00000695983.1:c.2862+82C>T	ENSP00000512308.1:n.2862+82C>T
ENST00000695984.1:c.952C>T	ENSP00000512309.1:p.Pro318Ser
ENST00000695986.1:c.*2595C>T	ENSP00000512311.1:n.*2595C>T
ENST00000696025.1:n.3028C>T
ENST00000696026.1:c.*1226C>T	ENSP00000512335.1:n.*1226C>T
ENST00000696027.1:c.2938C>T	ENSP00000512336.1:p.Pro980Ser
ENST00000696028.1:c.2884+60C>T	ENSP00000512337.1:n.2884+60C>T
ENST00000696029.1:c.2944C>T	ENSP00000512338.1:p.Pro982Ser
ENST00000696031.1:c.*2462C>T	ENSP00000512340.1:n.*2462C>T
ENST00000696032.1:c.2944C>T	ENSP00000512341.1:p.Pro982Ser
ENST00000696033.1:c.1160-39017C>T	ENSP00000512342.1:n.1160-39017C>T
XR_001737134.2:n.3130C>T