Canonical Allele Identifier: CA343989096

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716399T>A (hg19) ; chr1:g.196747269T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747269T>A , CM000663.2:g.196747269T>A	GRCh38
NC_000001.10:g.196716399T>A , CM000663.1:g.196716399T>A	GRCh37
NC_000001.9:g.194983022T>A	NCBI36
NG_007259.1:g.100259T>A , LRG_47:g.100259T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367429.8:c.3652T>A	ENSP00000356399.4:p.Cys1218Ser
NM_000186.3:c.3652T>A , LRG_47t1:c.3652T>A	NP_000177.2:p.Cys1218Ser
NM_000186.4:c.3652T>A MANE Select	NP_000177.2:p.Cys1218Ser