Canonical Allele Identifier: CA344004523
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995752T>G , CM000663.2:g.196995752T>G GRCh38
NC_000001.10:g.196964882T>G , CM000663.1:g.196964882T>G GRCh37
NC_000001.9:g.195231505T>G NCBI36
NG_016365.1:g.23216T>G , LRG_227:g.23216T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.388T>G ENSP00000514393.1:p.Ser130Ala
ENST00000699467.1:n.712T>G
ENST00000699468.1:c.-24-362T>G ENSP00000514394.1:n.-24-362T>G
ENST00000256785.5:c.643T>G MANE Select ENSP00000256785.4:p.Ser215Ala
ENST00000256785.4:c.643T>G ENSP00000256785.4:p.Ser215Ala
NM_030787.3:c.643T>G , LRG_227t1:c.643T>G NP_110414.1:p.Ser215Ala
XM_011510020.1:c.652T>G XP_011508322.1:p.Ser218Ala
XM_011510020.2:c.652T>G XP_011508322.1:p.Ser218Ala
NM_030787.4:c.643T>G MANE Select NP_110414.1:p.Ser215Ala