Canonical Allele Identifier: CA344004426
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196964863T>G (hg19) chr1:g.196995733T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995733T>G , CM000663.2:g.196995733T>G GRCh38
NC_000001.10:g.196964863T>G , CM000663.1:g.196964863T>G GRCh37
NC_000001.9:g.195231486T>G NCBI36
NG_016365.1:g.23197T>G , LRG_227:g.23197T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.369T>G ENSP00000514393.1:p.Cys123Trp
ENST00000699467.1:n.693T>G
ENST00000699468.1:c.-24-381T>G ENSP00000514394.1:n.-24-381T>G
ENST00000256785.5:c.624T>G MANE Select ENSP00000256785.4:p.Cys208Trp
ENST00000256785.4:c.624T>G ENSP00000256785.4:p.Cys208Trp
NM_030787.3:c.624T>G , LRG_227t1:c.624T>G NP_110414.1:p.Cys208Trp
XM_011510020.1:c.633T>G XP_011508322.1:p.Cys211Trp
XM_011510020.2:c.633T>G XP_011508322.1:p.Cys211Trp
NM_030787.4:c.624T>G MANE Select NP_110414.1:p.Cys208Trp
Search 100 bp 5'
Search 100 bp 3'