Canonical Allele Identifier: CA257490

Gene: CFH

Linked Data

• ClinVar Variation Id: 16542
• ClinVar RCV Id: RCV000018008
• dbSNP Id: rs121913051
• MyVariant Identifiers: chr1:g.196716390C>G (hg19) ; chr1:g.196747260C>G (hg38)
• PubMed: PMID:646435 ; PMID:9551389 ; PMID:11170896 ; PMID:12697737

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000367429.8:c.3643C>G	ENSP00000356399.4:p.Arg1215Gly
NM_000186.3:c.3643C>G , LRG_47t1:c.3643C>G	NP_000177.2:p.Arg1215Gly
NM_000186.4:c.3643C>G MANE Select	NP_000177.2:p.Arg1215Gly