Canonical Allele Identifier: CA422662889

Gene: CFH

Linked Data

• dbSNP Id: rs1339152978
• gnomAD v2: 1-196712652-A-G
• gnomAD v4: 1-196743522-A-G
• MyVariant Identifiers: chr1:g.196712652A>G (hg19) ; chr1:g.196743522A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743522A>G , CM000663.2:g.196743522A>G	GRCh38
NC_000001.10:g.196712652A>G , CM000663.1:g.196712652A>G	GRCh37
NC_000001.9:g.194979275A>G	NCBI36
NG_007259.1:g.96512A>G , LRG_47:g.96512A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4232A>G
ENST00000695970.1:c.3030A>G	ENSP00000512297.1:p.Pro1010=
ENST00000695971.1:c.3183A>G	ENSP00000512298.1:p.Pro1061=
ENST00000695972.1:c.*281A>G	ENSP00000512299.1:n.*281A>G
ENST00000695973.1:c.*1568A>G	ENSP00000512300.1:n.*1568A>G
ENST00000695974.1:c.3027A>G	ENSP00000512301.1:p.Pro1009=
ENST00000695975.1:c.*1331A>G	ENSP00000512302.1:n.*1331A>G
ENST00000695976.1:c.3015A>G	ENSP00000512303.1:p.Pro1005=
ENST00000695981.1:c.3204A>G	ENSP00000512306.1:p.Pro1068=
ENST00000695984.1:c.1212A>G	ENSP00000512309.1:p.Pro404=
ENST00000695986.1:c.*2855A>G	ENSP00000512311.1:n.*2855A>G
ENST00000696026.1:c.*1486A>G	ENSP00000512335.1:n.*1486A>G
ENST00000696027.1:c.3198A>G	ENSP00000512336.1:p.Pro1066=
ENST00000696028.1:c.3132A>G	ENSP00000512337.1:p.Pro1044=
ENST00000696029.1:c.3198A>G	ENSP00000512338.1:p.Pro1066=
ENST00000696031.1:c.*2722A>G	ENSP00000512340.1:n.*2722A>G
ENST00000696032.1:c.3204A>G	ENSP00000512341.1:p.Pro1068=
ENST00000696033.1:c.1160-36275A>G	ENSP00000512342.1:n.1160-36275A>G
ENST00000367429.9:c.3204A>G MANE Select	ENSP00000356399.4:p.Pro1068=
ENST00000367429.8:c.3204A>G	ENSP00000356399.4:p.Pro1068=
ENST00000466229.5:n.6302A>G
NM_000186.3:c.3204A>G , LRG_47t1:c.3204A>G	NP_000177.2:p.Pro1068=
XR_001737134.2:n.3390A>G
NM_000186.4:c.3204A>G MANE Select	NP_000177.2:p.Pro1068=