Canonical Allele Identifier: CA1305997
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs780411647

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747266_196747268del , CM000663.2:g.196747266_196747268del GRCh38
NC_000001.10:g.196716396_196716398del , CM000663.1:g.196716396_196716398del GRCh37
NC_000001.9:g.194983019_194983021del NCBI36
NG_007259.1:g.100256_100258del , LRG_47:g.100256_100258del

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.3649_3651del MANE Select ENSP00000356399.4:p.Thr1217del
ENST00000367429.8:c.3649_3651del ENSP00000356399.4:p.Thr1217del
ENST00000466229.5:n.6747_6749del
NM_000186.3:c.3649_3651del , LRG_47t1:c.3649_3651del NP_000177.2:p.Thr1217del
XR_001737134.2:n.3835_3837del
NM_000186.4:c.3649_3651del MANE Select NP_000177.2:p.Thr1217del