Canonical Allele Identifier: CA422663846
Gene: CFH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196716413A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4694A>G
ENST00000695970.1:c.3492A>G ENSP00000512297.1:p.Lys1164=
ENST00000695971.1:c.3645A>G ENSP00000512298.1:p.Lys1215=
ENST00000695972.1:c.*743A>G ENSP00000512299.1:n.*743A>G
ENST00000695973.1:c.*2030A>G ENSP00000512300.1:n.*2030A>G
ENST00000695974.1:c.3489A>G ENSP00000512301.1:p.Lys1163=
ENST00000695975.1:c.*1793A>G ENSP00000512302.1:n.*1793A>G
ENST00000695976.1:c.3477A>G ENSP00000512303.1:p.Lys1159=
ENST00000695981.1:c.3580+86A>G ENSP00000512306.1:n.3580+86A>G
ENST00000695984.1:c.1674A>G ENSP00000512309.1:p.Lys558=
ENST00000695986.1:c.*3317A>G ENSP00000512311.1:n.*3317A>G
ENST00000695990.1:n.700A>G
ENST00000696026.1:c.*1948A>G ENSP00000512335.1:n.*1948A>G
ENST00000696027.1:c.3660A>G ENSP00000512336.1:p.Lys1220=
ENST00000696028.1:c.3594A>G ENSP00000512337.1:p.Lys1198=
ENST00000696029.1:c.3660A>G ENSP00000512338.1:p.Lys1220=
ENST00000696031.1:c.*3184A>G ENSP00000512340.1:n.*3184A>G
ENST00000696032.1:c.3580+86A>G ENSP00000512341.1:n.3580+86A>G
ENST00000696033.1:c.1160-32514A>G ENSP00000512342.1:n.1160-32514A>G
ENST00000367429.9:c.3666A>G MANE Select ENSP00000356399.4:p.Lys1222=
ENST00000367429.8:c.3666A>G ENSP00000356399.4:p.Lys1222=
ENST00000466229.5:n.6764A>G
NM_000186.3:c.3666A>G , LRG_47t1:c.3666A>G NP_000177.2:p.Lys1222=
XR_001737134.2:n.3852A>G
NM_000186.4:c.3666A>G MANE Select NP_000177.2:p.Lys1222=