Canonical Allele Identifier: CA343983224

Gene: CFH

Linked Data

• dbSNP Id: rs1558185764
• gnomAD v4: 1-196743499-T-G
• MyVariant Identifiers: chr1:g.196712629T>G (hg19) ; chr1:g.196743499T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743499T>G , CM000663.2:g.196743499T>G	GRCh38
NC_000001.10:g.196712629T>G , CM000663.1:g.196712629T>G	GRCh37
NC_000001.9:g.194979252T>G	NCBI36
NG_007259.1:g.96489T>G , LRG_47:g.96489T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4209T>G
ENST00000695970.1:c.3007T>G	ENSP00000512297.1:p.Ser1003Ala
ENST00000695971.1:c.3160T>G	ENSP00000512298.1:p.Ser1054Ala
ENST00000695972.1:c.*258T>G	ENSP00000512299.1:n.*258T>G
ENST00000695973.1:c.*1545T>G	ENSP00000512300.1:n.*1545T>G
ENST00000695974.1:c.3004T>G	ENSP00000512301.1:p.Ser1002Ala
ENST00000695975.1:c.*1308T>G	ENSP00000512302.1:n.*1308T>G
ENST00000695976.1:c.2992T>G	ENSP00000512303.1:p.Ser998Ala
ENST00000695981.1:c.3181T>G	ENSP00000512306.1:p.Ser1061Ala
ENST00000695984.1:c.1189T>G	ENSP00000512309.1:p.Ser397Ala
ENST00000695986.1:c.*2832T>G	ENSP00000512311.1:n.*2832T>G
ENST00000696026.1:c.*1463T>G	ENSP00000512335.1:n.*1463T>G
ENST00000696027.1:c.3175T>G	ENSP00000512336.1:p.Ser1059Ala
ENST00000696028.1:c.3109T>G	ENSP00000512337.1:p.Ser1037Ala
ENST00000696029.1:c.3175T>G	ENSP00000512338.1:p.Ser1059Ala
ENST00000696031.1:c.*2699T>G	ENSP00000512340.1:n.*2699T>G
ENST00000696032.1:c.3181T>G	ENSP00000512341.1:p.Ser1061Ala
ENST00000696033.1:c.1160-36298T>G	ENSP00000512342.1:n.1160-36298T>G
ENST00000367429.9:c.3181T>G MANE Select	ENSP00000356399.4:p.Ser1061Ala
ENST00000367429.8:c.3181T>G	ENSP00000356399.4:p.Ser1061Ala
ENST00000466229.5:n.6279T>G
NM_000186.3:c.3181T>G , LRG_47t1:c.3181T>G	NP_000177.2:p.Ser1061Ala
XR_001737134.2:n.3367T>G
NM_000186.4:c.3181T>G MANE Select	NP_000177.2:p.Ser1061Ala