Canonical Allele Identifier: CA344004600

Gene: CFHR5

Linked Data

• MyVariant Identifiers: chr1:g.196964894G>T (hg19) ; chr1:g.196995764G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995764G>T , CM000663.2:g.196995764G>T	GRCh38
NC_000001.10:g.196964894G>T , CM000663.1:g.196964894G>T	GRCh37
NC_000001.9:g.195231517G>T	NCBI36
NG_016365.1:g.23228G>T , LRG_227:g.23228G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.400G>T	ENSP00000514393.1:p.Val134Phe
ENST00000699467.1:n.724G>T
ENST00000699468.1:c.-24-350G>T	ENSP00000514394.1:n.-24-350G>T
ENST00000256785.5:c.655G>T MANE Select	ENSP00000256785.4:p.Val219Phe
ENST00000256785.4:c.655G>T	ENSP00000256785.4:p.Val219Phe
NM_030787.3:c.655G>T , LRG_227t1:c.655G>T	NP_110414.1:p.Val219Phe
XM_011510020.1:c.664G>T	XP_011508322.1:p.Val222Phe
XM_011510020.2:c.664G>T	XP_011508322.1:p.Val222Phe
NM_030787.4:c.655G>T MANE Select	NP_110414.1:p.Val219Phe