Canonical Allele Identifier: CA344005302

Gene: CFHR5

Linked Data

• COSMIC: COSM678380 ; COSM1646062
• MyVariant Identifiers: chr1:g.196965150A>T (hg19) ; chr1:g.196996020A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196996020A>T , CM000663.2:g.196996020A>T	GRCh38
NC_000001.10:g.196965150A>T , CM000663.1:g.196965150A>T	GRCh37
NC_000001.9:g.195231773A>T	NCBI36
NG_016365.1:g.23484A>T , LRG_227:g.23484A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.536-2A>T	ENSP00000514393.1:n.536-2A>T
ENST00000699467.1:n.860-2A>T
ENST00000699468.1:c.-24-94A>T	ENSP00000514394.1:n.-24-94A>T
ENST00000256785.5:c.791-2A>T MANE Select	ENSP00000256785.4:n.791-2A>T
ENST00000256785.4:c.791-2A>T	ENSP00000256785.4:n.791-2A>T
NM_030787.3:c.791-2A>T , LRG_227t1:c.791-2A>T	NP_110414.1:n.791-2A>T
XM_011510020.1:c.800-2A>T	XP_011508322.1:n.800-2A>T
XM_011510020.2:c.800-2A>T	XP_011508322.1:n.800-2A>T
NM_030787.4:c.791-2A>T MANE Select	NP_110414.1:n.791-2A>T