Canonical Allele Identifier: CA343981816

Gene: CFH

Linked Data

• dbSNP Id: rs1668779719
• gnomAD v3: 1-196713797-T-A
• gnomAD v4: 1-196713797-T-A
• MyVariant Identifiers: chr1:g.196682927T>A (hg19) ; chr1:g.196713797T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196713797T>A , CM000663.2:g.196713797T>A	GRCh38
NC_000001.10:g.196682927T>A , CM000663.1:g.196682927T>A	GRCh37
NC_000001.9:g.194949550T>A	NCBI36
NG_007259.1:g.66787T>A , LRG_47:g.66787T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1665T>A
ENST00000695969.1:c.1399T>A	ENSP00000512296.1:p.Tyr467Asn
ENST00000695970.1:c.1399T>A	ENSP00000512297.1:p.Tyr467Asn
ENST00000695971.1:c.1378T>A	ENSP00000512298.1:p.Tyr460Asn
ENST00000695972.1:c.1399T>A	ENSP00000512299.1:p.Tyr467Asn
ENST00000695973.1:c.1399T>A	ENSP00000512300.1:p.Tyr467Asn
ENST00000695974.1:c.1399T>A	ENSP00000512301.1:p.Tyr467Asn
ENST00000695975.1:c.1399T>A	ENSP00000512302.1:p.Tyr467Asn
ENST00000695976.1:c.1210T>A	ENSP00000512303.1:p.Tyr404Asn
ENST00000695981.1:c.1399T>A	ENSP00000512306.1:p.Tyr467Asn
ENST00000695983.1:c.1399T>A	ENSP00000512308.1:p.Tyr467Asn
ENST00000695984.1:c.245-14549T>A	ENSP00000512309.1:n.245-14549T>A
ENST00000695986.1:c.*1050T>A	ENSP00000512311.1:n.*1050T>A
ENST00000696024.1:n.1483T>A
ENST00000696025.1:n.1483T>A
ENST00000696026.1:c.1399T>A	ENSP00000512335.1:p.Tyr467Asn
ENST00000696027.1:c.1399T>A	ENSP00000512336.1:p.Tyr467Asn
ENST00000696028.1:c.1399T>A	ENSP00000512337.1:p.Tyr467Asn
ENST00000696029.1:c.1399T>A	ENSP00000512338.1:p.Tyr467Asn
ENST00000696031.1:c.*917T>A	ENSP00000512340.1:n.*917T>A
ENST00000696032.1:c.1399T>A	ENSP00000512341.1:p.Tyr467Asn
ENST00000696033.1:c.1159+24183T>A	ENSP00000512342.1:n.1159+24183T>A
ENST00000367429.9:c.1399T>A MANE Select	ENSP00000356399.4:p.Tyr467Asn
ENST00000367429.8:c.1399T>A	ENSP00000356399.4:p.Tyr467Asn
ENST00000466229.5:n.3415T>A
NM_000186.3:c.1399T>A , LRG_47t1:c.1399T>A	NP_000177.2:p.Tyr467Asn
XR_001737134.2:n.1484T>A
NM_000186.4:c.1399T>A MANE Select	NP_000177.2:p.Tyr467Asn