Canonical Allele Identifier: CA343988279
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.3647C>T MANE Select ENSP00000356399.4:p.Thr1216Ile
ENST00000367429.8:c.3647C>T ENSP00000356399.4:p.Thr1216Ile
ENST00000466229.5:n.6745C>T
NM_000186.3:c.3647C>T , LRG_47t1:c.3647C>T NP_000177.2:p.Thr1216Ile
XR_001737134.2:n.3833C>T
NM_000186.4:c.3647C>T MANE Select NP_000177.2:p.Thr1216Ile