Canonical Allele Identifier: CA344004991

Gene: CFHR5

Linked Data

• gnomAD v4: 1-196995841-C-A
• MyVariant Identifiers: chr1:g.196964971C>A (hg19) ; chr1:g.196995841C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995841C>A , CM000663.2:g.196995841C>A	GRCh38
NC_000001.10:g.196964971C>A , CM000663.1:g.196964971C>A	GRCh37
NC_000001.9:g.195231594C>A	NCBI36
NG_016365.1:g.23305C>A , LRG_227:g.23305C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.477C>A	ENSP00000514393.1:p.Asn159Lys
ENST00000699467.1:n.801C>A
ENST00000699468.1:c.-24-273C>A	ENSP00000514394.1:n.-24-273C>A
ENST00000256785.5:c.732C>A MANE Select	ENSP00000256785.4:p.Asn244Lys
ENST00000256785.4:c.732C>A	ENSP00000256785.4:p.Asn244Lys
NM_030787.3:c.732C>A , LRG_227t1:c.732C>A	NP_110414.1:p.Asn244Lys
XM_011510020.1:c.741C>A	XP_011508322.1:p.Asn247Lys
XM_011510020.2:c.741C>A	XP_011508322.1:p.Asn247Lys
NM_030787.4:c.732C>A MANE Select	NP_110414.1:p.Asn244Lys