Canonical Allele Identifier: CA343989172

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716403G>C (hg19) ; chr1:g.196747273G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747273G>C , CM000663.2:g.196747273G>C	GRCh38
NC_000001.10:g.196716403G>C , CM000663.1:g.196716403G>C	GRCh37
NC_000001.9:g.194983026G>C	NCBI36
NG_007259.1:g.100263G>C , LRG_47:g.100263G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367429.8:c.3656G>C	ENSP00000356399.4:p.Trp1219Ser
NM_000186.3:c.3656G>C , LRG_47t1:c.3656G>C	NP_000177.2:p.Trp1219Ser
NM_000186.4:c.3656G>C MANE Select	NP_000177.2:p.Trp1219Ser