Canonical Allele Identifier: CA344005974

Gene: CFHR5

Linked Data

• MyVariant Identifiers: chr1:g.196965263A>C (hg19) ; chr1:g.196996133A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196996133A>C , CM000663.2:g.196996133A>C	GRCh38
NC_000001.10:g.196965263A>C , CM000663.1:g.196965263A>C	GRCh37
NC_000001.9:g.195231886A>C	NCBI36
NG_016365.1:g.23597A>C , LRG_227:g.23597A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.647A>C	ENSP00000514393.1:p.Tyr216Ser
ENST00000699467.1:n.971A>C
ENST00000699468.1:c.-5A>C	ENSP00000514394.1:n.-5A>C
ENST00000256785.5:c.902A>C MANE Select	ENSP00000256785.4:p.Tyr301Ser
ENST00000256785.4:c.902A>C	ENSP00000256785.4:p.Tyr301Ser
NM_030787.3:c.902A>C , LRG_227t1:c.902A>C	NP_110414.1:p.Tyr301Ser
XM_011510020.1:c.911A>C	XP_011508322.1:p.Tyr304Ser
XM_011510020.2:c.911A>C	XP_011508322.1:p.Tyr304Ser
NM_030787.4:c.902A>C MANE Select	NP_110414.1:p.Tyr301Ser