Canonical Allele Identifier: CA1307868

Gene: CFHR5

Linked Data

• dbSNP Id: rs776642759
• ExAC: 1:196965101 C / G
• gnomAD v2: 1-196965101-C-G
• gnomAD v3: 1-196995971-C-G
• gnomAD v4: 1-196995971-C-G
• MyVariant Identifiers: chr1:g.196965101C>G (hg19) ; chr1:g.196995971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995971C>G , CM000663.2:g.196995971C>G	GRCh38
NC_000001.10:g.196965101C>G , CM000663.1:g.196965101C>G	GRCh37
NC_000001.9:g.195231724C>G	NCBI36
NG_016365.1:g.23435C>G , LRG_227:g.23435C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.536-51C>G	ENSP00000514393.1:n.536-51C>G
ENST00000699467.1:n.860-51C>G
ENST00000699468.1:c.-24-143C>G	ENSP00000514394.1:n.-24-143C>G
ENST00000256785.5:c.791-51C>G MANE Select	ENSP00000256785.4:n.791-51C>G
ENST00000256785.4:c.791-51C>G	ENSP00000256785.4:n.791-51C>G
NM_030787.3:c.791-51C>G , LRG_227t1:c.791-51C>G	NP_110414.1:n.791-51C>G
XM_011510020.1:c.800-51C>G	XP_011508322.1:n.800-51C>G
XM_011510020.2:c.800-51C>G	XP_011508322.1:n.800-51C>G
NM_030787.4:c.791-51C>G MANE Select	NP_110414.1:n.791-51C>G