Canonical Allele Identifier: CA343983373

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712644A>C (hg19) ; chr1:g.196743514A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743514A>C , CM000663.2:g.196743514A>C	GRCh38
NC_000001.10:g.196712644A>C , CM000663.1:g.196712644A>C	GRCh37
NC_000001.9:g.194979267A>C	NCBI36
NG_007259.1:g.96504A>C , LRG_47:g.96504A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4224A>C
ENST00000695970.1:c.3022A>C	ENSP00000512297.1:p.Lys1008Gln
ENST00000695971.1:c.3175A>C	ENSP00000512298.1:p.Lys1059Gln
ENST00000695972.1:c.*273A>C	ENSP00000512299.1:n.*273A>C
ENST00000695973.1:c.*1560A>C	ENSP00000512300.1:n.*1560A>C
ENST00000695974.1:c.3019A>C	ENSP00000512301.1:p.Lys1007Gln
ENST00000695975.1:c.*1323A>C	ENSP00000512302.1:n.*1323A>C
ENST00000695976.1:c.3007A>C	ENSP00000512303.1:p.Lys1003Gln
ENST00000695981.1:c.3196A>C	ENSP00000512306.1:p.Lys1066Gln
ENST00000695984.1:c.1204A>C	ENSP00000512309.1:p.Lys402Gln
ENST00000695986.1:c.*2847A>C	ENSP00000512311.1:n.*2847A>C
ENST00000696026.1:c.*1478A>C	ENSP00000512335.1:n.*1478A>C
ENST00000696027.1:c.3190A>C	ENSP00000512336.1:p.Lys1064Gln
ENST00000696028.1:c.3124A>C	ENSP00000512337.1:p.Lys1042Gln
ENST00000696029.1:c.3190A>C	ENSP00000512338.1:p.Lys1064Gln
ENST00000696031.1:c.*2714A>C	ENSP00000512340.1:n.*2714A>C
ENST00000696032.1:c.3196A>C	ENSP00000512341.1:p.Lys1066Gln
ENST00000696033.1:c.1160-36283A>C	ENSP00000512342.1:n.1160-36283A>C
ENST00000367429.9:c.3196A>C MANE Select	ENSP00000356399.4:p.Lys1066Gln
ENST00000367429.8:c.3196A>C	ENSP00000356399.4:p.Lys1066Gln
ENST00000466229.5:n.6294A>C
NM_000186.3:c.3196A>C , LRG_47t1:c.3196A>C	NP_000177.2:p.Lys1066Gln
XR_001737134.2:n.3382A>C
NM_000186.4:c.3196A>C MANE Select	NP_000177.2:p.Lys1066Gln