Canonical Allele Identifier: CA422663628
Gene: CFH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196716390C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747260C>A , CM000663.2:g.196747260C>A GRCh38
NC_000001.10:g.196716390C>A , CM000663.1:g.196716390C>A GRCh37
NC_000001.9:g.194983013C>A NCBI36
NG_007259.1:g.100250C>A , LRG_47:g.100250C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.8:c.3643C>A ENSP00000356399.4:p.Arg1215=
NM_000186.3:c.3643C>A , LRG_47t1:c.3643C>A NP_000177.2:p.Arg1215=
NM_000186.4:c.3643C>A MANE Select NP_000177.2:p.Arg1215=