Canonical Allele Identifier: CA344004563
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196964888G>C (hg19) chr1:g.196995758G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995758G>C , CM000663.2:g.196995758G>C GRCh38
NC_000001.10:g.196964888G>C , CM000663.1:g.196964888G>C GRCh37
NC_000001.9:g.195231511G>C NCBI36
NG_016365.1:g.23222G>C , LRG_227:g.23222G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.394G>C ENSP00000514393.1:p.Gly132Arg
ENST00000699467.1:n.718G>C
ENST00000699468.1:c.-24-356G>C ENSP00000514394.1:n.-24-356G>C
ENST00000256785.5:c.649G>C MANE Select ENSP00000256785.4:p.Gly217Arg
ENST00000256785.4:c.649G>C ENSP00000256785.4:p.Gly217Arg
NM_030787.3:c.649G>C , LRG_227t1:c.649G>C NP_110414.1:p.Gly217Arg
XM_011510020.1:c.658G>C XP_011508322.1:p.Gly220Arg
XM_011510020.2:c.658G>C XP_011508322.1:p.Gly220Arg
NM_030787.4:c.649G>C MANE Select NP_110414.1:p.Gly217Arg
Search 100 bp 5'
Search 100 bp 3'