Canonical Allele Identifier: CA343989081

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716396A>T (hg19) ; chr1:g.196747266A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747266A>T , CM000663.2:g.196747266A>T	GRCh38
NC_000001.10:g.196716396A>T , CM000663.1:g.196716396A>T	GRCh37
NC_000001.9:g.194983019A>T	NCBI36
NG_007259.1:g.100256A>T , LRG_47:g.100256A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367429.9:c.3649A>T MANE Select	ENSP00000356399.4:p.Thr1217Ser
ENST00000367429.8:c.3649A>T	ENSP00000356399.4:p.Thr1217Ser
NM_000186.3:c.3649A>T , LRG_47t1:c.3649A>T	NP_000177.2:p.Thr1217Ser
NM_000186.4:c.3649A>T MANE Select	NP_000177.2:p.Thr1217Ser