Canonical Allele Identifier: CA1307805

Gene: CFHR5

Linked Data

• dbSNP Id: rs374298298
• ExAC: 1:196964809 A / C
• gnomAD v2: 1-196964809-A-C
• gnomAD v4: 1-196995679-A-C
• MyVariant Identifiers: chr1:g.196964809A>C (hg19) ; chr1:g.196995679A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995679A>C , CM000663.2:g.196995679A>C	GRCh38
NC_000001.10:g.196964809A>C , CM000663.1:g.196964809A>C	GRCh37
NC_000001.9:g.195231432A>C	NCBI36
NG_016365.1:g.23143A>C , LRG_227:g.23143A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.353-38A>C	ENSP00000514393.1:n.353-38A>C
ENST00000699467.1:n.677-38A>C
ENST00000699468.1:c.-24-435A>C	ENSP00000514394.1:n.-24-435A>C
ENST00000256785.5:c.608-38A>C MANE Select	ENSP00000256785.4:n.608-38A>C
ENST00000256785.4:c.608-38A>C	ENSP00000256785.4:n.608-38A>C
NM_030787.3:c.608-38A>C , LRG_227t1:c.608-38A>C	NP_110414.1:n.608-38A>C
XM_011510020.1:c.617-38A>C	XP_011508322.1:n.617-38A>C
XM_011510020.2:c.617-38A>C	XP_011508322.1:n.617-38A>C
NM_030787.4:c.608-38A>C MANE Select	NP_110414.1:n.608-38A>C