Canonical Allele Identifier: CA344004370
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196964856G>C (hg19) chr1:g.196995726G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995726G>C , CM000663.2:g.196995726G>C GRCh38
NC_000001.10:g.196964856G>C , CM000663.1:g.196964856G>C GRCh37
NC_000001.9:g.195231479G>C NCBI36
NG_016365.1:g.23190G>C , LRG_227:g.23190G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.362G>C ENSP00000514393.1:p.Arg121Pro
ENST00000699467.1:n.686G>C
ENST00000699468.1:c.-24-388G>C ENSP00000514394.1:n.-24-388G>C
ENST00000256785.5:c.617G>C MANE Select ENSP00000256785.4:p.Arg206Pro
ENST00000256785.4:c.617G>C ENSP00000256785.4:p.Arg206Pro
NM_030787.3:c.617G>C , LRG_227t1:c.617G>C NP_110414.1:p.Arg206Pro
XM_011510020.1:c.626G>C XP_011508322.1:p.Arg209Pro
XM_011510020.2:c.626G>C XP_011508322.1:p.Arg209Pro
NM_030787.4:c.617G>C MANE Select NP_110414.1:p.Arg206Pro
Search 100 bp 5'
Search 100 bp 3'