Canonical Allele Identifier: CA344004627

Gene: CFHR5

Linked Data

• MyVariant Identifiers: chr1:g.196964899G>T (hg19) ; chr1:g.196995769G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995769G>T , CM000663.2:g.196995769G>T	GRCh38
NC_000001.10:g.196964899G>T , CM000663.1:g.196964899G>T	GRCh37
NC_000001.9:g.195231522G>T	NCBI36
NG_016365.1:g.23233G>T , LRG_227:g.23233G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.405G>T	ENSP00000514393.1:p.Lys135Asn
ENST00000699467.1:n.729G>T
ENST00000699468.1:c.-24-345G>T	ENSP00000514394.1:n.-24-345G>T
ENST00000256785.5:c.660G>T MANE Select	ENSP00000256785.4:p.Lys220Asn
ENST00000256785.4:c.660G>T	ENSP00000256785.4:p.Lys220Asn
NM_030787.3:c.660G>T , LRG_227t1:c.660G>T	NP_110414.1:p.Lys220Asn
XM_011510020.1:c.669G>T	XP_011508322.1:p.Lys223Asn
XM_011510020.2:c.669G>T	XP_011508322.1:p.Lys223Asn
NM_030787.4:c.660G>T MANE Select	NP_110414.1:p.Lys220Asn