Canonical Allele Identifier: CA10747843

Gene: CFH

Linked Data

• dbSNP Id: rs393955
• gnomAD: 1:196692470 C / A
• MyVariant Identifiers: chr1:g.196692470C>A (hg19) ; chr1:g.196723340C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196723340C>A , CM000663.2:g.196723340C>A	GRCh38
NC_000001.10:g.196692470C>A , CM000663.1:g.196692470C>A	GRCh37
NC_000001.9:g.194959093C>A	NCBI36
NG_007259.1:g.76330C>A , LRG_47:g.76330C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367429.9:c.1697-1781C>A MANE Select	ENSP00000356399.4:p.=
ENST00000367429.8:c.1697-1781C>A	ENSP00000356399.4:p.=
ENST00000466229.5:n.3713-1781C>A
NM_000186.3:c.1697-1781C>A , LRG_47t1:c.1697-1781C>A	NP_000177.2:p.=
XR_001737134.2:n.1883-1781C>A
NM_000186.4:c.1697-1781C>A MANE Select	NP_000177.2:p.=