Canonical Allele Identifier: CA1305703

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196737512C>T , CM000663.2:g.196737512C>T	GRCh38
NC_000001.10:g.196706642C>T , CM000663.1:g.196706642C>T	GRCh37
NC_000001.9:g.194973265C>T	NCBI36
NG_007259.1:g.90502C>T , LRG_47:g.90502C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000186.4:c.2634C>T MANE Select	NP_000177.2:p.His878=
ENST00000367429.9:c.2634C>T MANE Select	ENSP00000356399.4:p.His878=
NM_000186.3:c.2634C>T , LRG_47t1:c.2634C>T	NP_000177.2:p.His878=
ENST00000367429.8:c.2634C>T	ENSP00000356399.4:p.His878=
ENST00000466229.5:n.4650C>T
ENST00000470918.1:n.137C>T
ENST00000470918.2:n.2900C>T
ENST00000695969.1:c.2634C>T	ENSP00000512296.1:p.His878=
ENST00000695970.1:c.2634C>T	ENSP00000512297.1:p.His878=
ENST00000695971.1:c.2613C>T	ENSP00000512298.1:p.His871=
ENST00000695972.1:c.2233-3152C>T	ENSP00000512299.1:n.2233-3152C>T
ENST00000695973.1:c.*998C>T	ENSP00000512300.1:n.*998C>T
ENST00000695974.1:c.2457C>T	ENSP00000512301.1:p.His819=
ENST00000695975.1:c.*761C>T	ENSP00000512302.1:n.*761C>T
ENST00000695976.1:c.2445C>T	ENSP00000512303.1:p.His815=
ENST00000695981.1:c.2634C>T	ENSP00000512306.1:p.His878=
ENST00000695983.1:c.2634C>T	ENSP00000512308.1:p.His878=
ENST00000695984.1:c.642C>T	ENSP00000512309.1:p.His214=
ENST00000695986.1:c.*2285C>T	ENSP00000512311.1:n.*2285C>T
ENST00000696025.1:n.2718C>T
ENST00000696026.1:c.*916C>T	ENSP00000512335.1:n.*916C>T
ENST00000696027.1:c.2628C>T	ENSP00000512336.1:p.His876=
ENST00000696028.1:c.2634C>T	ENSP00000512337.1:p.His878=
ENST00000696029.1:c.2634C>T	ENSP00000512338.1:p.His878=
ENST00000696031.1:c.*2152C>T	ENSP00000512340.1:n.*2152C>T
ENST00000696032.1:c.2634C>T	ENSP00000512341.1:p.His878=
ENST00000696033.1:c.1160-42285C>T	ENSP00000512342.1:n.1160-42285C>T
XR_001737134.2:n.2820C>T