Canonical Allele Identifier: CA344005426
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196965175A>C (hg19) chr1:g.196996045A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996045A>C , CM000663.2:g.196996045A>C GRCh38
NC_000001.10:g.196965175A>C , CM000663.1:g.196965175A>C GRCh37
NC_000001.9:g.195231798A>C NCBI36
NG_016365.1:g.23509A>C , LRG_227:g.23509A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.559A>C ENSP00000514393.1:p.Ile187Leu
ENST00000699467.1:n.883A>C
ENST00000699468.1:c.-24-69A>C ENSP00000514394.1:n.-24-69A>C
ENST00000256785.5:c.814A>C MANE Select ENSP00000256785.4:p.Ile272Leu
ENST00000256785.4:c.814A>C ENSP00000256785.4:p.Ile272Leu
NM_030787.3:c.814A>C , LRG_227t1:c.814A>C NP_110414.1:p.Ile272Leu
XM_011510020.1:c.823A>C XP_011508322.1:p.Ile275Leu
XM_011510020.2:c.823A>C XP_011508322.1:p.Ile275Leu
NM_030787.4:c.814A>C MANE Select NP_110414.1:p.Ile272Leu
Search 100 bp 5'
Search 100 bp 3'