Canonical Allele Identifier: CA2649656641

Gene: CFHR5

Linked Data

• gnomAD v4: 1-196995945-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995945C>T , CM000663.2:g.196995945C>T	GRCh38
NC_000001.10:g.196965075C>T , CM000663.1:g.196965075C>T	GRCh37
NC_000001.9:g.195231698C>T	NCBI36
NG_016365.1:g.23409C>T , LRG_227:g.23409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.535+46C>T	ENSP00000514393.1:n.535+46C>T
ENST00000699467.1:n.859+46C>T
ENST00000699468.1:c.-24-169C>T	ENSP00000514394.1:n.-24-169C>T
ENST00000256785.5:c.790+46C>T MANE Select	ENSP00000256785.4:n.790+46C>T
ENST00000256785.4:c.790+46C>T	ENSP00000256785.4:n.790+46C>T
NM_030787.3:c.790+46C>T , LRG_227t1:c.790+46C>T	NP_110414.1:n.790+46C>T
XM_011510020.1:c.799+46C>T	XP_011508322.1:n.799+46C>T
XM_011510020.2:c.799+46C>T	XP_011508322.1:n.799+46C>T
NM_030787.4:c.790+46C>T MANE Select	NP_110414.1:n.790+46C>T