Canonical Allele Identifier: CA343989195

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716406A>C (hg19) ; chr1:g.196747276A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747276A>C , CM000663.2:g.196747276A>C	GRCh38
NC_000001.10:g.196716406A>C , CM000663.1:g.196716406A>C	GRCh37
NC_000001.9:g.194983029A>C	NCBI36
NG_007259.1:g.100266A>C , LRG_47:g.100266A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367429.8:c.3659A>C	ENSP00000356399.4:p.Asp1220Ala
NM_000186.3:c.3659A>C , LRG_47t1:c.3659A>C	NP_000177.2:p.Asp1220Ala
NM_000186.4:c.3659A>C MANE Select	NP_000177.2:p.Asp1220Ala