Canonical Allele Identifier: CA344004661
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196964904T>A (hg19) chr1:g.196995774T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995774T>A , CM000663.2:g.196995774T>A GRCh38
NC_000001.10:g.196964904T>A , CM000663.1:g.196964904T>A GRCh37
NC_000001.9:g.195231527T>A NCBI36
NG_016365.1:g.23238T>A , LRG_227:g.23238T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.410T>A ENSP00000514393.1:p.Ile137Lys
ENST00000699467.1:n.734T>A
ENST00000699468.1:c.-24-340T>A ENSP00000514394.1:n.-24-340T>A
ENST00000256785.5:c.665T>A MANE Select ENSP00000256785.4:p.Ile222Lys
ENST00000256785.4:c.665T>A ENSP00000256785.4:p.Ile222Lys
NM_030787.3:c.665T>A , LRG_227t1:c.665T>A NP_110414.1:p.Ile222Lys
XM_011510020.1:c.674T>A XP_011508322.1:p.Ile225Lys
XM_011510020.2:c.674T>A XP_011508322.1:p.Ile225Lys
NM_030787.4:c.665T>A MANE Select NP_110414.1:p.Ile222Lys
Search 100 bp 5'
Search 100 bp 3'