Canonical Allele Identifier: CA343988235
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747261G>A , CM000663.2:g.196747261G>A GRCh38
NC_000001.10:g.196716391G>A , CM000663.1:g.196716391G>A GRCh37
NC_000001.9:g.194983014G>A NCBI36
NG_007259.1:g.100251G>A , LRG_47:g.100251G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.8:c.3644G>A ENSP00000356399.4:p.Arg1215Gln
NM_000186.3:c.3644G>A , LRG_47t1:c.3644G>A NP_000177.2:p.Arg1215Gln
NM_000186.4:c.3644G>A MANE Select NP_000177.2:p.Arg1215Gln