Canonical Allele Identifier: CA343988262

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716393A>G (hg19) ; chr1:g.196747263A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747263A>G , CM000663.2:g.196747263A>G	GRCh38
NC_000001.10:g.196716393A>G , CM000663.1:g.196716393A>G	GRCh37
NC_000001.9:g.194983016A>G	NCBI36
NG_007259.1:g.100253A>G , LRG_47:g.100253A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367429.8:c.3646A>G	ENSP00000356399.4:p.Thr1216Ala
NM_000186.3:c.3646A>G , LRG_47t1:c.3646A>G	NP_000177.2:p.Thr1216Ala
NM_000186.4:c.3646A>G MANE Select	NP_000177.2:p.Thr1216Ala