Canonical Allele Identifier: CA341428

Gene: CFH

Linked Data

• ClinVar Variation Id: 16545
• ClinVar RCV Id: RCV000018011
• dbSNP Id: rs460897
• COSMIC: COSM3480827
• MyVariant Identifiers: chr1:g.196716319C>T (hg19) ; chr1:g.196747189C>T (hg38)
• PubMed: PMID:9811382 ; PMID:10577907 ; PMID:10762557 ; PMID:16470555 ; PMID:17076561 ; PMID:20301541

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747189C>T , CM000663.2:g.196747189C>T	GRCh38
NC_000001.10:g.196716319C>T , CM000663.1:g.196716319C>T	GRCh37
NC_000001.9:g.194982942C>T	NCBI36
NG_007259.1:g.100179C>T , LRG_47:g.100179C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367429.9:c.3572C>T MANE Select	ENSP00000356399.4:p.Ser1191Leu
ENST00000367429.8:c.3572C>T	ENSP00000356399.4:p.Ser1191Leu
ENST00000466229.5:n.6670C>T
NM_000186.3:c.3572C>T , LRG_47t1:c.3572C>T	NP_000177.2:p.Ser1191Leu
XR_001737134.2:n.3758C>T
NM_000186.4:c.3572C>T MANE Select	NP_000177.2:p.Ser1191Leu