Canonical Allele Identifier: CA15145304

Gene: CFH

Linked Data

• dbSNP Id: rs1831282
• gnomAD: 1:196673993 A / C
• MyVariant Identifiers: chr1:g.196673993A>C (hg19) ; chr1:g.196704863A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196704863A>C , CM000663.2:g.196704863A>C	GRCh38
NC_000001.10:g.196673993A>C , CM000663.1:g.196673993A>C	GRCh37
NC_000001.9:g.194940616A>C	NCBI36
NG_007259.1:g.57853A>C , LRG_47:g.57853A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367429.9:c.1337-8872A>C MANE Select	ENSP00000356399.4:p.=
ENST00000367429.8:c.1337-8872A>C	ENSP00000356399.4:p.=
ENST00000466229.5:n.3353-8872A>C
NM_000186.3:c.1337-8872A>C , LRG_47t1:c.1337-8872A>C	NP_000177.2:p.=
XR_001737134.2:n.1422-8872A>C
NM_000186.4:c.1337-8872A>C MANE Select	NP_000177.2:p.=