Canonical Allele Identifier: CA343989153
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747272T>G , CM000663.2:g.196747272T>G GRCh38
NC_000001.10:g.196716402T>G , CM000663.1:g.196716402T>G GRCh37
NC_000001.9:g.194983025T>G NCBI36
NG_007259.1:g.100262T>G , LRG_47:g.100262T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.3655T>G MANE Select ENSP00000356399.4:p.Trp1219Gly
ENST00000367429.8:c.3655T>G ENSP00000356399.4:p.Trp1219Gly
ENST00000466229.5:n.6753T>G
NM_000186.3:c.3655T>G , LRG_47t1:c.3655T>G NP_000177.2:p.Trp1219Gly
XR_001737134.2:n.3841T>G
NM_000186.4:c.3655T>G MANE Select NP_000177.2:p.Trp1219Gly