Canonical Allele Identifier: CA10747847
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs1576340

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196729581G>T , CM000663.2:g.196729581G>T GRCh38
NC_000001.10:g.196698711G>T , CM000663.1:g.196698711G>T GRCh37
NC_000001.9:g.194965334G>T NCBI36
NG_007259.1:g.82571G>T , LRG_47:g.82571G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.2413+1059G>T MANE Select ENSP00000356399.4:p.=
ENST00000367429.8:c.2413+1059G>T ENSP00000356399.4:p.=
ENST00000466229.5:n.4429+1059G>T
NM_000186.3:c.2413+1059G>T , LRG_47t1:c.2413+1059G>T NP_000177.2:p.=
XR_001737134.2:n.2599+1059G>T
NM_000186.4:c.2413+1059G>T MANE Select NP_000177.2:p.=