Canonical Allele Identifier: CA422802654

Gene: CFHR5

Linked Data

• MyVariant Identifiers: chr1:g.196964872T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995742T>C , CM000663.2:g.196995742T>C	GRCh38
NC_000001.10:g.196964872T>C , CM000663.1:g.196964872T>C	GRCh37
NC_000001.9:g.195231495T>C	NCBI36
NG_016365.1:g.23206T>C , LRG_227:g.23206T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.378T>C	ENSP00000514393.1:p.Pro126=
ENST00000699467.1:n.702T>C
ENST00000699468.1:c.-24-372T>C	ENSP00000514394.1:n.-24-372T>C
ENST00000256785.5:c.633T>C MANE Select	ENSP00000256785.4:p.Pro211=
ENST00000256785.4:c.633T>C	ENSP00000256785.4:p.Pro211=
NM_030787.3:c.633T>C , LRG_227t1:c.633T>C	NP_110414.1:p.Pro211=
XM_011510020.1:c.642T>C	XP_011508322.1:p.Pro214=
XM_011510020.2:c.642T>C	XP_011508322.1:p.Pro214=
NM_030787.4:c.633T>C MANE Select	NP_110414.1:p.Pro211=