Canonical Allele Identifier: CA344007976

Gene: CFHR5

Linked Data

• MyVariant Identifiers: chr1:g.196967422G>T (hg19) ; chr1:g.196998292G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196998292G>T , CM000663.2:g.196998292G>T	GRCh38
NC_000001.10:g.196967422G>T , CM000663.1:g.196967422G>T	GRCh37
NC_000001.9:g.195234045G>T	NCBI36
NG_016365.1:g.25756G>T , LRG_227:g.25756G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.880G>T	ENSP00000514393.1:p.Val294Leu
ENST00000699467.1:n.1204G>T
ENST00000699468.1:c.229G>T	ENSP00000514394.1:p.Val77Leu
ENST00000699469.1:n.823G>T
ENST00000256785.5:c.1135G>T MANE Select	ENSP00000256785.4:p.Val379Leu
ENST00000256785.4:c.1135G>T	ENSP00000256785.4:p.Val379Leu
NM_030787.3:c.1135G>T , LRG_227t1:c.1135G>T	NP_110414.1:p.Val379Leu
XM_011510020.1:c.1144G>T	XP_011508322.1:p.Val382Leu
XM_011510020.2:c.1144G>T	XP_011508322.1:p.Val382Leu
NM_030787.4:c.1135G>T MANE Select	NP_110414.1:p.Val379Leu