Canonical Allele Identifier: CA422663829
Gene: CFH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196716401T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747271T>C , CM000663.2:g.196747271T>C GRCh38
NC_000001.10:g.196716401T>C , CM000663.1:g.196716401T>C GRCh37
NC_000001.9:g.194983024T>C NCBI36
NG_007259.1:g.100261T>C , LRG_47:g.100261T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367429.9:c.3654T>C MANE Select ENSP00000356399.4:p.Cys1218=
ENST00000367429.8:c.3654T>C ENSP00000356399.4:p.Cys1218=
NM_000186.3:c.3654T>C , LRG_47t1:c.3654T>C NP_000177.2:p.Cys1218=
NM_000186.4:c.3654T>C MANE Select NP_000177.2:p.Cys1218=