Canonical Allele Identifier: CA343983723

Gene: CFH

Linked Data

• gnomAD v4: 1-196743557-C-T
• COSMIC: COSM901543
• MyVariant Identifiers: chr1:g.196712687C>T (hg19) ; chr1:g.196743557C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743557C>T , CM000663.2:g.196743557C>T	GRCh38
NC_000001.10:g.196712687C>T , CM000663.1:g.196712687C>T	GRCh37
NC_000001.9:g.194979310C>T	NCBI36
NG_007259.1:g.96547C>T , LRG_47:g.96547C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4267C>T
ENST00000695970.1:c.3065C>T	ENSP00000512297.1:p.Pro1022Leu
ENST00000695971.1:c.3218C>T	ENSP00000512298.1:p.Pro1073Leu
ENST00000695972.1:c.*316C>T	ENSP00000512299.1:n.*316C>T
ENST00000695973.1:c.*1603C>T	ENSP00000512300.1:n.*1603C>T
ENST00000695974.1:c.3062C>T	ENSP00000512301.1:p.Pro1021Leu
ENST00000695975.1:c.*1366C>T	ENSP00000512302.1:n.*1366C>T
ENST00000695976.1:c.3050C>T	ENSP00000512303.1:p.Pro1017Leu
ENST00000695981.1:c.3239C>T	ENSP00000512306.1:p.Pro1080Leu
ENST00000695984.1:c.1247C>T	ENSP00000512309.1:p.Pro416Leu
ENST00000695986.1:c.*2890C>T	ENSP00000512311.1:n.*2890C>T
ENST00000696026.1:c.*1521C>T	ENSP00000512335.1:n.*1521C>T
ENST00000696027.1:c.3233C>T	ENSP00000512336.1:p.Pro1078Leu
ENST00000696028.1:c.3167C>T	ENSP00000512337.1:p.Pro1056Leu
ENST00000696029.1:c.3233C>T	ENSP00000512338.1:p.Pro1078Leu
ENST00000696031.1:c.*2757C>T	ENSP00000512340.1:n.*2757C>T
ENST00000696032.1:c.3239C>T	ENSP00000512341.1:p.Pro1080Leu
ENST00000696033.1:c.1160-36240C>T	ENSP00000512342.1:n.1160-36240C>T
ENST00000367429.9:c.3239C>T MANE Select	ENSP00000356399.4:p.Pro1080Leu
ENST00000367429.8:c.3239C>T	ENSP00000356399.4:p.Pro1080Leu
ENST00000466229.5:n.6337C>T
NM_000186.3:c.3239C>T , LRG_47t1:c.3239C>T	NP_000177.2:p.Pro1080Leu
XR_001737134.2:n.3425C>T
NM_000186.4:c.3239C>T MANE Select	NP_000177.2:p.Pro1080Leu