Canonical Allele Identifier: CA343987853

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716334C>G (hg19) ; chr1:g.196747204C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747204C>G , CM000663.2:g.196747204C>G	GRCh38
NC_000001.10:g.196716334C>G , CM000663.1:g.196716334C>G	GRCh37
NC_000001.9:g.194982957C>G	NCBI36
NG_007259.1:g.100194C>G , LRG_47:g.100194C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4615C>G
ENST00000695970.1:c.3413C>G	ENSP00000512297.1:p.Ser1138Ter
ENST00000695971.1:c.3566C>G	ENSP00000512298.1:p.Ser1189Ter
ENST00000695972.1:c.*664C>G	ENSP00000512299.1:n.*664C>G
ENST00000695973.1:c.*1951C>G	ENSP00000512300.1:n.*1951C>G
ENST00000695974.1:c.3410C>G	ENSP00000512301.1:p.Ser1137Ter
ENST00000695975.1:c.*1714C>G	ENSP00000512302.1:n.*1714C>G
ENST00000695976.1:c.3398C>G	ENSP00000512303.1:p.Ser1133Ter
ENST00000695981.1:c.3580+7C>G	ENSP00000512306.1:n.3580+7C>G
ENST00000695984.1:c.1595C>G	ENSP00000512309.1:p.Ser532Ter
ENST00000695986.1:c.*3238C>G	ENSP00000512311.1:n.*3238C>G
ENST00000695990.1:n.621C>G
ENST00000696026.1:c.*1869C>G	ENSP00000512335.1:n.*1869C>G
ENST00000696027.1:c.3581C>G	ENSP00000512336.1:p.Ser1194Ter
ENST00000696028.1:c.3515C>G	ENSP00000512337.1:p.Ser1172Ter
ENST00000696029.1:c.3581C>G	ENSP00000512338.1:p.Ser1194Ter
ENST00000696031.1:c.*3105C>G	ENSP00000512340.1:n.*3105C>G
ENST00000696032.1:c.3580+7C>G	ENSP00000512341.1:n.3580+7C>G
ENST00000696033.1:c.1160-32593C>G	ENSP00000512342.1:n.1160-32593C>G
ENST00000367429.9:c.3587C>G MANE Select	ENSP00000356399.4:p.Ser1196Ter
ENST00000367429.8:c.3587C>G	ENSP00000356399.4:p.Ser1196Ter
ENST00000466229.5:n.6685C>G
NM_000186.3:c.3587C>G , LRG_47t1:c.3587C>G	NP_000177.2:p.Ser1196Ter
XR_001737134.2:n.3773C>G
NM_000186.4:c.3587C>G MANE Select	NP_000177.2:p.Ser1196Ter