Canonical Allele Identifier: CA10747847

Gene: CFH

Linked Data

• dbSNP Id: rs1576340
• gnomAD: 1:196698711 G / T
• MyVariant Identifiers: chr1:g.196698711G>T (hg19) ; chr1:g.196729581G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196729581G>T , CM000663.2:g.196729581G>T	GRCh38
NC_000001.10:g.196698711G>T , CM000663.1:g.196698711G>T	GRCh37
NC_000001.9:g.194965334G>T	NCBI36
NG_007259.1:g.82571G>T , LRG_47:g.82571G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367429.9:c.2413+1059G>T MANE Select	ENSP00000356399.4:p.=
ENST00000367429.8:c.2413+1059G>T	ENSP00000356399.4:p.=
ENST00000466229.5:n.4429+1059G>T
NM_000186.3:c.2413+1059G>T , LRG_47t1:c.2413+1059G>T	NP_000177.2:p.=
XR_001737134.2:n.2599+1059G>T
NM_000186.4:c.2413+1059G>T MANE Select	NP_000177.2:p.=