Canonical Allele Identifier: CA344005344
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196965157G>C (hg19) chr1:g.196996027G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996027G>C , CM000663.2:g.196996027G>C GRCh38
NC_000001.10:g.196965157G>C , CM000663.1:g.196965157G>C GRCh37
NC_000001.9:g.195231780G>C NCBI36
NG_016365.1:g.23491G>C , LRG_227:g.23491G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.541G>C ENSP00000514393.1:p.Val181Leu
ENST00000699467.1:n.865G>C
ENST00000699468.1:c.-24-87G>C ENSP00000514394.1:n.-24-87G>C
ENST00000256785.5:c.796G>C MANE Select ENSP00000256785.4:p.Val266Leu
ENST00000256785.4:c.796G>C ENSP00000256785.4:p.Val266Leu
NM_030787.3:c.796G>C , LRG_227t1:c.796G>C NP_110414.1:p.Val266Leu
XM_011510020.1:c.805G>C XP_011508322.1:p.Val269Leu
XM_011510020.2:c.805G>C XP_011508322.1:p.Val269Leu
NM_030787.4:c.796G>C MANE Select NP_110414.1:p.Val266Leu
Search 100 bp 5'
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