Canonical Allele Identifier: CA343987360

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716289T>G (hg19) ; chr1:g.196747159T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747159T>G , CM000663.2:g.196747159T>G	GRCh38
NC_000001.10:g.196716289T>G , CM000663.1:g.196716289T>G	GRCh37
NC_000001.9:g.194982912T>G	NCBI36
NG_007259.1:g.100149T>G , LRG_47:g.100149T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4570T>G
ENST00000695970.1:c.3368T>G	ENSP00000512297.1:p.Leu1123Ter
ENST00000695971.1:c.3521T>G	ENSP00000512298.1:p.Leu1174Ter
ENST00000695972.1:c.*619T>G	ENSP00000512299.1:n.*619T>G
ENST00000695973.1:c.*1906T>G	ENSP00000512300.1:n.*1906T>G
ENST00000695974.1:c.3365T>G	ENSP00000512301.1:p.Leu1122Ter
ENST00000695975.1:c.*1669T>G	ENSP00000512302.1:n.*1669T>G
ENST00000695976.1:c.3353T>G	ENSP00000512303.1:p.Leu1118Ter
ENST00000695981.1:c.3542T>G	ENSP00000512306.1:p.Leu1181Ter
ENST00000695984.1:c.1550T>G	ENSP00000512309.1:p.Leu517Ter
ENST00000695986.1:c.*3193T>G	ENSP00000512311.1:n.*3193T>G
ENST00000695990.1:n.576T>G
ENST00000696026.1:c.*1824T>G	ENSP00000512335.1:n.*1824T>G
ENST00000696027.1:c.3536T>G	ENSP00000512336.1:p.Leu1179Ter
ENST00000696028.1:c.3470T>G	ENSP00000512337.1:p.Leu1157Ter
ENST00000696029.1:c.3536T>G	ENSP00000512338.1:p.Leu1179Ter
ENST00000696031.1:c.*3060T>G	ENSP00000512340.1:n.*3060T>G
ENST00000696032.1:c.3542T>G	ENSP00000512341.1:p.Leu1181Ter
ENST00000696033.1:c.1160-32638T>G	ENSP00000512342.1:n.1160-32638T>G
ENST00000367429.9:c.3542T>G MANE Select	ENSP00000356399.4:p.Leu1181Ter
ENST00000367429.8:c.3542T>G	ENSP00000356399.4:p.Leu1181Ter
ENST00000466229.5:n.6640T>G
NM_000186.3:c.3542T>G , LRG_47t1:c.3542T>G	NP_000177.2:p.Leu1181Ter
XR_001737134.2:n.3728T>G
NM_000186.4:c.3542T>G MANE Select	NP_000177.2:p.Leu1181Ter