Canonical Allele Identifier: CA1307683

Gene: CFHR5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196983953T>G , CM000663.2:g.196983953T>G	GRCh38
NC_000001.10:g.196953083T>G , CM000663.1:g.196953083T>G	GRCh37
NC_000001.9:g.195219706T>G	NCBI36
NG_016365.1:g.11417T>G , LRG_227:g.11417T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_030787.4:c.254-8T>G MANE Select	NP_110414.1:n.254-8T>G
ENST00000256785.5:c.254-8T>G MANE Select	ENSP00000256785.4:n.254-8T>G
NM_030787.3:c.254-8T>G , LRG_227t1:c.254-8T>G	NP_110414.1:n.254-8T>G
ENST00000256785.4:c.254-8T>G	ENSP00000256785.4:n.254-8T>G
ENST00000699466.1:c.-2-8T>G	ENSP00000514393.1:n.-2-8T>G
ENST00000699467.1:n.323-8T>G
ENST00000699468.1:c.-25+6273T>G	ENSP00000514394.1:n.-25+6273T>G
XM_011510020.1:c.263-8T>G	XP_011508322.1:n.263-8T>G
XM_011510020.2:c.263-8T>G	XP_011508322.1:n.263-8T>G