Canonical Allele Identifier: CA10786842
Gene: CFH HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs6677604

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196717788G>A , CM000663.2:g.196717788G>A GRCh38
NC_000001.10:g.196686918G>A , CM000663.1:g.196686918G>A GRCh37
NC_000001.9:g.194953541G>A NCBI36
NG_007259.1:g.70778G>A , LRG_47:g.70778G>A

Transcript Alleles

HGVS Amino-acid change
NM_000186.3:c.1696+2019G>A , LRG_47t1:c.1696+2019G>A NP_000177.2:p.=
XR_001737134.2:n.1781+2019G>A
ENST00000367429.8:c.1696+2019G>A ENSP00000356399.4:p.=
ENST00000466229.5:n.3712+2019G>A