Canonical Allele Identifier: CA1305981
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs369371759

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747187T>C , CM000663.2:g.196747187T>C GRCh38
NC_000001.10:g.196716317T>C , CM000663.1:g.196716317T>C GRCh37
NC_000001.9:g.194982940T>C NCBI36
NG_007259.1:g.100177T>C , LRG_47:g.100177T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4598T>C
ENST00000695970.1:c.3396T>C ENSP00000512297.1:p.Tyr1132=
ENST00000695971.1:c.3549T>C ENSP00000512298.1:p.Tyr1183=
ENST00000695972.1:c.*647T>C ENSP00000512299.1:n.*647T>C
ENST00000695973.1:c.*1934T>C ENSP00000512300.1:n.*1934T>C
ENST00000695974.1:c.3393T>C ENSP00000512301.1:p.Tyr1131=
ENST00000695975.1:c.*1697T>C ENSP00000512302.1:n.*1697T>C
ENST00000695976.1:c.3381T>C ENSP00000512303.1:p.Tyr1127=
ENST00000695981.1:c.3570T>C ENSP00000512306.1:p.Tyr1190=
ENST00000695984.1:c.1578T>C ENSP00000512309.1:p.Tyr526=
ENST00000695986.1:c.*3221T>C ENSP00000512311.1:n.*3221T>C
ENST00000695990.1:n.604T>C
ENST00000696026.1:c.*1852T>C ENSP00000512335.1:n.*1852T>C
ENST00000696027.1:c.3564T>C ENSP00000512336.1:p.Tyr1188=
ENST00000696028.1:c.3498T>C ENSP00000512337.1:p.Tyr1166=
ENST00000696029.1:c.3564T>C ENSP00000512338.1:p.Tyr1188=
ENST00000696031.1:c.*3088T>C ENSP00000512340.1:n.*3088T>C
ENST00000696032.1:c.3570T>C ENSP00000512341.1:p.Tyr1190=
ENST00000696033.1:c.1160-32610T>C ENSP00000512342.1:n.1160-32610T>C
ENST00000367429.9:c.3570T>C MANE Select ENSP00000356399.4:p.Tyr1190=
ENST00000367429.8:c.3570T>C ENSP00000356399.4:p.Tyr1190=
ENST00000466229.5:n.6668T>C
NM_000186.3:c.3570T>C , LRG_47t1:c.3570T>C NP_000177.2:p.Tyr1190=
XR_001737134.2:n.3756T>C
NM_000186.4:c.3570T>C MANE Select NP_000177.2:p.Tyr1190=