Canonical Allele Identifier: CA343988240
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747261G>T , CM000663.2:g.196747261G>T GRCh38
NC_000001.10:g.196716391G>T , CM000663.1:g.196716391G>T GRCh37
NC_000001.9:g.194983014G>T NCBI36
NG_007259.1:g.100251G>T , LRG_47:g.100251G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.3644G>T MANE Select ENSP00000356399.4:p.Arg1215Leu
ENST00000367429.8:c.3644G>T ENSP00000356399.4:p.Arg1215Leu
ENST00000466229.5:n.6742G>T
NM_000186.3:c.3644G>T , LRG_47t1:c.3644G>T NP_000177.2:p.Arg1215Leu
XR_001737134.2:n.3830G>T
NM_000186.4:c.3644G>T MANE Select NP_000177.2:p.Arg1215Leu