Canonical Allele Identifier: CA2649656646

Gene: CFHR5

Linked Data

• gnomAD v4: 1-196995953-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995953T>G , CM000663.2:g.196995953T>G	GRCh38
NC_000001.10:g.196965083T>G , CM000663.1:g.196965083T>G	GRCh37
NC_000001.9:g.195231706T>G	NCBI36
NG_016365.1:g.23417T>G , LRG_227:g.23417T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.535+54T>G	ENSP00000514393.1:n.535+54T>G
ENST00000699467.1:n.859+54T>G
ENST00000699468.1:c.-24-161T>G	ENSP00000514394.1:n.-24-161T>G
ENST00000256785.5:c.790+54T>G MANE Select	ENSP00000256785.4:n.790+54T>G
ENST00000256785.4:c.790+54T>G	ENSP00000256785.4:n.790+54T>G
NM_030787.3:c.790+54T>G , LRG_227t1:c.790+54T>G	NP_110414.1:n.790+54T>G
XM_011510020.1:c.799+54T>G	XP_011508322.1:n.799+54T>G
XM_011510020.2:c.799+54T>G	XP_011508322.1:n.799+54T>G
NM_030787.4:c.790+54T>G MANE Select	NP_110414.1:n.790+54T>G