Canonical Allele Identifier: CA35825499

Gene: CFH

Linked Data

• dbSNP Id: rs10801555
• gnomAD: 1:196660261 A / G
• MyVariant Identifiers: chr1:g.196660261A>G (hg19) ; chr1:g.196691131A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196691131A>G , CM000663.2:g.196691131A>G	GRCh38
NC_000001.10:g.196660261A>G , CM000663.1:g.196660261A>G	GRCh37
NC_000001.9:g.194926884A>G	NCBI36
NG_007259.1:g.44121A>G , LRG_47:g.44121A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367429.9:c.1336+892A>G MANE Select	ENSP00000356399.4:p.=
ENST00000359637.2:c.1144+892A>G	ENSP00000352658.2:p.=
ENST00000367429.8:c.1336+892A>G	ENSP00000356399.4:p.=
ENST00000466229.5:n.3352+892A>G
ENST00000630130.2:c.1336+892A>G	ENSP00000487250.1:p.=
NM_000186.3:c.1336+892A>G , LRG_47t1:c.1336+892A>G	NP_000177.2:p.=
NM_001014975.2:c.1336+892A>G	NP_001014975.1:p.=
XM_017001108.2:c.1336+892A>G	XP_016856597.1:p.=
XR_001737134.2:n.1421+892A>G
NM_000186.4:c.1336+892A>G MANE Select	NP_000177.2:p.=
NM_001014975.3:c.1336+892A>G	NP_001014975.1:p.=