Canonical Allele Identifier: CA344004796
Gene: CFHR5 HGNC NCBI

Linked Data

COSMIC: COSM1668311 COSM1668312
MyVariant Identifiers: chr1:g.196964926C>A (hg19) chr1:g.196995796C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995796C>A , CM000663.2:g.196995796C>A GRCh38
NC_000001.10:g.196964926C>A , CM000663.1:g.196964926C>A GRCh37
NC_000001.9:g.195231549C>A NCBI36
NG_016365.1:g.23260C>A , LRG_227:g.23260C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.432C>A ENSP00000514393.1:p.His144Gln
ENST00000699467.1:n.756C>A
ENST00000699468.1:c.-24-318C>A ENSP00000514394.1:n.-24-318C>A
ENST00000256785.5:c.687C>A MANE Select ENSP00000256785.4:p.His229Gln
ENST00000256785.4:c.687C>A ENSP00000256785.4:p.His229Gln
NM_030787.3:c.687C>A , LRG_227t1:c.687C>A NP_110414.1:p.His229Gln
XM_011510020.1:c.696C>A XP_011508322.1:p.His232Gln
XM_011510020.2:c.696C>A XP_011508322.1:p.His232Gln
NM_030787.4:c.687C>A MANE Select NP_110414.1:p.His229Gln
Search 100 bp 5'
Search 100 bp 3'