Canonical Allele Identifier: CA729718052

Gene: CFHR5

Linked Data

• dbSNP Id: rs1167728873
• gnomAD v3: 1-196995593-C-T
• gnomAD v4: 1-196995593-C-T
• MyVariant Identifiers: chr1:g.196964723C>T (hg19) ; chr1:g.196995593C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995593C>T , CM000663.2:g.196995593C>T	GRCh38
NC_000001.10:g.196964723C>T , CM000663.1:g.196964723C>T	GRCh37
NC_000001.9:g.195231346C>T	NCBI36
NG_016365.1:g.23057C>T , LRG_227:g.23057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.353-124C>T	ENSP00000514393.1:n.353-124C>T
ENST00000699467.1:n.677-124C>T
ENST00000699468.1:c.-24-521C>T	ENSP00000514394.1:n.-24-521C>T
ENST00000256785.5:c.608-124C>T MANE Select	ENSP00000256785.4:n.608-124C>T
ENST00000256785.4:c.608-124C>T	ENSP00000256785.4:n.608-124C>T
NM_030787.3:c.608-124C>T , LRG_227t1:c.608-124C>T	NP_110414.1:n.608-124C>T
XM_011510020.1:c.617-124C>T	XP_011508322.1:n.617-124C>T
XM_011510020.2:c.617-124C>T	XP_011508322.1:n.617-124C>T
NM_030787.4:c.608-124C>T MANE Select	NP_110414.1:n.608-124C>T