Canonical Allele Identifier: CA1305997
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs780411647

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747262_196747264del , CM000663.2:g.196747262_196747264del GRCh38
NC_000001.10:g.196716392_196716394del , CM000663.1:g.196716392_196716394del GRCh37
NC_000001.9:g.194983015_194983017del NCBI36
NG_007259.1:g.100252_100254del , LRG_47:g.100252_100254del

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.8:c.3645_3647del ENSP00000356399.4:p.Thr1217del
NM_000186.3:c.3645_3647del , LRG_47t1:c.3645_3647del NP_000177.2:p.Thr1217del
NM_000186.4:c.3645_3647del MANE Select NP_000177.2:p.Thr1217del