Canonical Allele Identifier: CA343987032

Gene: CFH

Linked Data

• COSMIC: COSM3418563
• MyVariant Identifiers: chr1:g.196716258C>T (hg19) ; chr1:g.196747128C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747128C>T , CM000663.2:g.196747128C>T	GRCh38
NC_000001.10:g.196716258C>T , CM000663.1:g.196716258C>T	GRCh37
NC_000001.9:g.194982881C>T	NCBI36
NG_007259.1:g.100118C>T , LRG_47:g.100118C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4539C>T
ENST00000695970.1:c.3337C>T	ENSP00000512297.1:p.Arg1113Ter
ENST00000695971.1:c.3490C>T	ENSP00000512298.1:p.Arg1164Ter
ENST00000695972.1:c.*588C>T	ENSP00000512299.1:n.*588C>T
ENST00000695973.1:c.*1875C>T	ENSP00000512300.1:n.*1875C>T
ENST00000695974.1:c.3334C>T	ENSP00000512301.1:p.Arg1112Ter
ENST00000695975.1:c.*1638C>T	ENSP00000512302.1:n.*1638C>T
ENST00000695976.1:c.3322C>T	ENSP00000512303.1:p.Arg1108Ter
ENST00000695981.1:c.3511C>T	ENSP00000512306.1:p.Arg1171Ter
ENST00000695984.1:c.1519C>T	ENSP00000512309.1:p.Arg507Ter
ENST00000695986.1:c.*3162C>T	ENSP00000512311.1:n.*3162C>T
ENST00000695990.1:n.545C>T
ENST00000696026.1:c.*1793C>T	ENSP00000512335.1:n.*1793C>T
ENST00000696027.1:c.3505C>T	ENSP00000512336.1:p.Arg1169Ter
ENST00000696028.1:c.3439C>T	ENSP00000512337.1:p.Arg1147Ter
ENST00000696029.1:c.3505C>T	ENSP00000512338.1:p.Arg1169Ter
ENST00000696031.1:c.*3029C>T	ENSP00000512340.1:n.*3029C>T
ENST00000696032.1:c.3511C>T	ENSP00000512341.1:p.Arg1171Ter
ENST00000696033.1:c.1160-32669C>T	ENSP00000512342.1:n.1160-32669C>T
ENST00000367429.9:c.3511C>T MANE Select	ENSP00000356399.4:p.Arg1171Ter
ENST00000367429.8:c.3511C>T	ENSP00000356399.4:p.Arg1171Ter
ENST00000466229.5:n.6609C>T
NM_000186.3:c.3511C>T , LRG_47t1:c.3511C>T	NP_000177.2:p.Arg1171Ter
XR_001737134.2:n.3697C>T
NM_000186.4:c.3511C>T MANE Select	NP_000177.2:p.Arg1171Ter