Canonical Allele Identifier: CA35825499
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs10801555

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196691131A>G , CM000663.2:g.196691131A>G GRCh38
NC_000001.10:g.196660261A>G , CM000663.1:g.196660261A>G GRCh37
NC_000001.9:g.194926884A>G NCBI36
NG_007259.1:g.44121A>G , LRG_47:g.44121A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.1336+892A>G MANE Select ENSP00000356399.4:p.=
ENST00000359637.2:c.1144+892A>G ENSP00000352658.2:p.=
ENST00000367429.8:c.1336+892A>G ENSP00000356399.4:p.=
ENST00000466229.5:n.3352+892A>G
ENST00000630130.2:c.1336+892A>G ENSP00000487250.1:p.=
NM_000186.3:c.1336+892A>G , LRG_47t1:c.1336+892A>G NP_000177.2:p.=
NM_001014975.2:c.1336+892A>G NP_001014975.1:p.=
XM_017001108.2:c.1336+892A>G XP_016856597.1:p.=
XR_001737134.2:n.1421+892A>G
NM_000186.4:c.1336+892A>G MANE Select NP_000177.2:p.=
NM_001014975.3:c.1336+892A>G NP_001014975.1:p.=