Canonical Allele Identifier: CA343989250
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747283A>C , CM000663.2:g.196747283A>C GRCh38
NC_000001.10:g.196716413A>C , CM000663.1:g.196716413A>C GRCh37
NC_000001.9:g.194983036A>C NCBI36
NG_007259.1:g.100273A>C , LRG_47:g.100273A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4694A>C
ENST00000695970.1:c.3492A>C ENSP00000512297.1:p.Lys1164Asn
ENST00000695971.1:c.3645A>C ENSP00000512298.1:p.Lys1215Asn
ENST00000695972.1:c.*743A>C ENSP00000512299.1:n.*743A>C
ENST00000695973.1:c.*2030A>C ENSP00000512300.1:n.*2030A>C
ENST00000695974.1:c.3489A>C ENSP00000512301.1:p.Lys1163Asn
ENST00000695975.1:c.*1793A>C ENSP00000512302.1:n.*1793A>C
ENST00000695976.1:c.3477A>C ENSP00000512303.1:p.Lys1159Asn
ENST00000695981.1:c.3580+86A>C ENSP00000512306.1:n.3580+86A>C
ENST00000695984.1:c.1674A>C ENSP00000512309.1:p.Lys558Asn
ENST00000695986.1:c.*3317A>C ENSP00000512311.1:n.*3317A>C
ENST00000695990.1:n.700A>C
ENST00000696026.1:c.*1948A>C ENSP00000512335.1:n.*1948A>C
ENST00000696027.1:c.3660A>C ENSP00000512336.1:p.Lys1220Asn
ENST00000696028.1:c.3594A>C ENSP00000512337.1:p.Lys1198Asn
ENST00000696029.1:c.3660A>C ENSP00000512338.1:p.Lys1220Asn
ENST00000696031.1:c.*3184A>C ENSP00000512340.1:n.*3184A>C
ENST00000696032.1:c.3580+86A>C ENSP00000512341.1:n.3580+86A>C
ENST00000696033.1:c.1160-32514A>C ENSP00000512342.1:n.1160-32514A>C
ENST00000367429.9:c.3666A>C MANE Select ENSP00000356399.4:p.Lys1222Asn
ENST00000367429.8:c.3666A>C ENSP00000356399.4:p.Lys1222Asn
ENST00000466229.5:n.6764A>C
NM_000186.3:c.3666A>C , LRG_47t1:c.3666A>C NP_000177.2:p.Lys1222Asn
XR_001737134.2:n.3852A>C
NM_000186.4:c.3666A>C MANE Select NP_000177.2:p.Lys1222Asn