Canonical Allele Identifier: CA15145304
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs1831282

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196704863A>C , CM000663.2:g.196704863A>C GRCh38
NC_000001.10:g.196673993A>C , CM000663.1:g.196673993A>C GRCh37
NC_000001.9:g.194940616A>C NCBI36
NG_007259.1:g.57853A>C , LRG_47:g.57853A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.1337-8872A>C MANE Select ENSP00000356399.4:p.=
ENST00000367429.8:c.1337-8872A>C ENSP00000356399.4:p.=
ENST00000466229.5:n.3353-8872A>C
NM_000186.3:c.1337-8872A>C , LRG_47t1:c.1337-8872A>C NP_000177.2:p.=
XR_001737134.2:n.1422-8872A>C
NM_000186.4:c.1337-8872A>C MANE Select NP_000177.2:p.=