Canonical Allele Identifier: CA343988275
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747264C>G , CM000663.2:g.196747264C>G GRCh38
NC_000001.10:g.196716394C>G , CM000663.1:g.196716394C>G GRCh37
NC_000001.9:g.194983017C>G NCBI36
NG_007259.1:g.100254C>G , LRG_47:g.100254C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.3647C>G MANE Select ENSP00000356399.4:p.Thr1216Arg
ENST00000367429.8:c.3647C>G ENSP00000356399.4:p.Thr1216Arg
NM_000186.3:c.3647C>G , LRG_47t1:c.3647C>G NP_000177.2:p.Thr1216Arg
NM_000186.4:c.3647C>G MANE Select NP_000177.2:p.Thr1216Arg