Canonical Allele Identifier: CA343989561

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716435A>T (hg19) ; chr1:g.196747305A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747305A>T , CM000663.2:g.196747305A>T	GRCh38
NC_000001.10:g.196716435A>T , CM000663.1:g.196716435A>T	GRCh37
NC_000001.9:g.194983058A>T	NCBI36
NG_007259.1:g.100295A>T , LRG_47:g.100295A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4716A>T
ENST00000695970.1:c.3514A>T	ENSP00000512297.1:p.Lys1172Ter
ENST00000695971.1:c.3667A>T	ENSP00000512298.1:p.Lys1223Ter
ENST00000695972.1:c.*765A>T	ENSP00000512299.1:n.*765A>T
ENST00000695973.1:c.*2052A>T	ENSP00000512300.1:n.*2052A>T
ENST00000695974.1:c.3511A>T	ENSP00000512301.1:p.Lys1171Ter
ENST00000695975.1:c.*1815A>T	ENSP00000512302.1:n.*1815A>T
ENST00000695976.1:c.3499A>T	ENSP00000512303.1:p.Lys1167Ter
ENST00000695981.1:c.3580+108A>T	ENSP00000512306.1:n.3580+108A>T
ENST00000695984.1:c.1696A>T	ENSP00000512309.1:p.Lys566Ter
ENST00000695986.1:c.*3339A>T	ENSP00000512311.1:n.*3339A>T
ENST00000695990.1:n.722A>T
ENST00000696026.1:c.*1970A>T	ENSP00000512335.1:n.*1970A>T
ENST00000696027.1:c.3682A>T	ENSP00000512336.1:p.Lys1228Ter
ENST00000696028.1:c.3616A>T	ENSP00000512337.1:p.Lys1206Ter
ENST00000696029.1:c.3682A>T	ENSP00000512338.1:p.Lys1228Ter
ENST00000696031.1:c.*3206A>T	ENSP00000512340.1:n.*3206A>T
ENST00000696032.1:c.3580+108A>T	ENSP00000512341.1:n.3580+108A>T
ENST00000696033.1:c.1160-32492A>T	ENSP00000512342.1:n.1160-32492A>T
ENST00000367429.9:c.3688A>T MANE Select	ENSP00000356399.4:p.Lys1230Ter
ENST00000367429.8:c.3688A>T	ENSP00000356399.4:p.Lys1230Ter
ENST00000466229.5:n.6786A>T
NM_000186.3:c.3688A>T , LRG_47t1:c.3688A>T	NP_000177.2:p.Lys1230Ter
XR_001737134.2:n.3874A>T
NM_000186.4:c.3688A>T MANE Select	NP_000177.2:p.Lys1230Ter