Canonical Allele Identifier: CA2649656647
Gene: CFHR5 HGNC NCBI

Linked Data

gnomAD v4: 1-196995955-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995955T>C , CM000663.2:g.196995955T>C GRCh38
NC_000001.10:g.196965085T>C , CM000663.1:g.196965085T>C GRCh37
NC_000001.9:g.195231708T>C NCBI36
NG_016365.1:g.23419T>C , LRG_227:g.23419T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.535+56T>C ENSP00000514393.1:n.535+56T>C
ENST00000699467.1:n.859+56T>C
ENST00000699468.1:c.-24-159T>C ENSP00000514394.1:n.-24-159T>C
ENST00000256785.5:c.790+56T>C MANE Select ENSP00000256785.4:n.790+56T>C
ENST00000256785.4:c.790+56T>C ENSP00000256785.4:n.790+56T>C
NM_030787.3:c.790+56T>C , LRG_227t1:c.790+56T>C NP_110414.1:n.790+56T>C
XM_011510020.1:c.799+56T>C XP_011508322.1:n.799+56T>C
XM_011510020.2:c.799+56T>C XP_011508322.1:n.799+56T>C
NM_030787.4:c.790+56T>C MANE Select NP_110414.1:n.790+56T>C
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