Canonical Allele Identifier: CA344004430
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995734G>A , CM000663.2:g.196995734G>A GRCh38
NC_000001.10:g.196964864G>A , CM000663.1:g.196964864G>A GRCh37
NC_000001.9:g.195231487G>A NCBI36
NG_016365.1:g.23198G>A , LRG_227:g.23198G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.370G>A ENSP00000514393.1:p.Gly124Ser
ENST00000699467.1:n.694G>A
ENST00000699468.1:c.-24-380G>A ENSP00000514394.1:n.-24-380G>A
ENST00000256785.5:c.625G>A MANE Select ENSP00000256785.4:p.Gly209Ser
ENST00000256785.4:c.625G>A ENSP00000256785.4:p.Gly209Ser
NM_030787.3:c.625G>A , LRG_227t1:c.625G>A NP_110414.1:p.Gly209Ser
XM_011510020.1:c.634G>A XP_011508322.1:p.Gly212Ser
XM_011510020.2:c.634G>A XP_011508322.1:p.Gly212Ser
NM_030787.4:c.625G>A MANE Select NP_110414.1:p.Gly209Ser