Canonical Allele Identifier: CA2649656622

Gene: CFHR5

Linked Data

• gnomAD v4: 1-196995904-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995904A>C , CM000663.2:g.196995904A>C	GRCh38
NC_000001.10:g.196965034A>C , CM000663.1:g.196965034A>C	GRCh37
NC_000001.9:g.195231657A>C	NCBI36
NG_016365.1:g.23368A>C , LRG_227:g.23368A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.535+5A>C	ENSP00000514393.1:n.535+5A>C
ENST00000699467.1:n.859+5A>C
ENST00000699468.1:c.-24-210A>C	ENSP00000514394.1:n.-24-210A>C
ENST00000256785.5:c.790+5A>C MANE Select	ENSP00000256785.4:n.790+5A>C
ENST00000256785.4:c.790+5A>C	ENSP00000256785.4:n.790+5A>C
NM_030787.3:c.790+5A>C , LRG_227t1:c.790+5A>C	NP_110414.1:n.790+5A>C
XM_011510020.1:c.799+5A>C	XP_011508322.1:n.799+5A>C
XM_011510020.2:c.799+5A>C	XP_011508322.1:n.799+5A>C
NM_030787.4:c.790+5A>C MANE Select	NP_110414.1:n.790+5A>C