Canonical Allele Identifier: CA343989060
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.3649A>G MANE Select ENSP00000356399.4:p.Thr1217Ala
ENST00000367429.8:c.3649A>G ENSP00000356399.4:p.Thr1217Ala
ENST00000466229.5:n.6747A>G
NM_000186.3:c.3649A>G , LRG_47t1:c.3649A>G NP_000177.2:p.Thr1217Ala
XR_001737134.2:n.3835A>G
NM_000186.4:c.3649A>G MANE Select NP_000177.2:p.Thr1217Ala