Canonical Allele Identifier: CA343983457

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712651C>T (hg19) ; chr1:g.196743521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743521C>T , CM000663.2:g.196743521C>T	GRCh38
NC_000001.10:g.196712651C>T , CM000663.1:g.196712651C>T	GRCh37
NC_000001.9:g.194979274C>T	NCBI36
NG_007259.1:g.96511C>T , LRG_47:g.96511C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4231C>T
ENST00000695970.1:c.3029C>T	ENSP00000512297.1:p.Pro1010Leu
ENST00000695971.1:c.3182C>T	ENSP00000512298.1:p.Pro1061Leu
ENST00000695972.1:c.*280C>T	ENSP00000512299.1:n.*280C>T
ENST00000695973.1:c.*1567C>T	ENSP00000512300.1:n.*1567C>T
ENST00000695974.1:c.3026C>T	ENSP00000512301.1:p.Pro1009Leu
ENST00000695975.1:c.*1330C>T	ENSP00000512302.1:n.*1330C>T
ENST00000695976.1:c.3014C>T	ENSP00000512303.1:p.Pro1005Leu
ENST00000695981.1:c.3203C>T	ENSP00000512306.1:p.Pro1068Leu
ENST00000695984.1:c.1211C>T	ENSP00000512309.1:p.Pro404Leu
ENST00000695986.1:c.*2854C>T	ENSP00000512311.1:n.*2854C>T
ENST00000696026.1:c.*1485C>T	ENSP00000512335.1:n.*1485C>T
ENST00000696027.1:c.3197C>T	ENSP00000512336.1:p.Pro1066Leu
ENST00000696028.1:c.3131C>T	ENSP00000512337.1:p.Pro1044Leu
ENST00000696029.1:c.3197C>T	ENSP00000512338.1:p.Pro1066Leu
ENST00000696031.1:c.*2721C>T	ENSP00000512340.1:n.*2721C>T
ENST00000696032.1:c.3203C>T	ENSP00000512341.1:p.Pro1068Leu
ENST00000696033.1:c.1160-36276C>T	ENSP00000512342.1:n.1160-36276C>T
ENST00000367429.9:c.3203C>T MANE Select	ENSP00000356399.4:p.Pro1068Leu
ENST00000367429.8:c.3203C>T	ENSP00000356399.4:p.Pro1068Leu
ENST00000466229.5:n.6301C>T
NM_000186.3:c.3203C>T , LRG_47t1:c.3203C>T	NP_000177.2:p.Pro1068Leu
XR_001737134.2:n.3389C>T
NM_000186.4:c.3203C>T MANE Select	NP_000177.2:p.Pro1068Leu