Canonical Allele Identifier: CA1305284
Gene: CFH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 294490
dbSNP Id: rs1061170

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196690107C>T , CM000663.2:g.196690107C>T GRCh38
NC_000001.10:g.196659237C>T , CM000663.1:g.196659237C>T GRCh37
NC_000001.9:g.194925860C>T NCBI36
NG_007259.1:g.43097C>T , LRG_47:g.43097C>T

Transcript Alleles

HGVS Amino-acid change
NM_000186.3:c.1204C>T , LRG_47t1:c.1204C>T NP_000177.2:p.His402Tyr
NM_001014975.2:c.1204C>T VV NP_001014975.1:p.His402Tyr
XM_017001108.2:c.1204C>T XP_016856597.1:p.His402Tyr
XR_001737134.2:n.1289C>T
ENST00000359637.2:c.1012C>T ENSP00000352658.2:p.His338Tyr
ENST00000367429.8:c.1204C>T ENSP00000356399.4:p.His402Tyr
ENST00000466229.5:n.3220C>T
ENST00000630130.2:c.1204C>T ENSP00000487250.1:p.His402Tyr