Canonical Allele Identifier: CA1307881

Gene: CFHR5

Linked Data

• dbSNP Id: rs376176542
• ExAC: 1:196965165 A / T
• gnomAD v2: 1-196965165-A-T
• MyVariant Identifiers: chr1:g.196965165A>T (hg19) ; chr1:g.196996035A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196996035A>T , CM000663.2:g.196996035A>T	GRCh38
NC_000001.10:g.196965165A>T , CM000663.1:g.196965165A>T	GRCh37
NC_000001.9:g.195231788A>T	NCBI36
NG_016365.1:g.23499A>T , LRG_227:g.23499A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.549A>T	ENSP00000514393.1:p.Thr183=
ENST00000699467.1:n.873A>T
ENST00000699468.1:c.-24-79A>T	ENSP00000514394.1:n.-24-79A>T
ENST00000256785.5:c.804A>T MANE Select	ENSP00000256785.4:p.Thr268=
ENST00000256785.4:c.804A>T	ENSP00000256785.4:p.Thr268=
NM_030787.3:c.804A>T , LRG_227t1:c.804A>T	NP_110414.1:p.Thr268=
XM_011510020.1:c.813A>T	XP_011508322.1:p.Thr271=
XM_011510020.2:c.813A>T	XP_011508322.1:p.Thr271=
NM_030787.4:c.804A>T MANE Select	NP_110414.1:p.Thr268=