Canonical Allele Identifier: CA422802716
Gene: CFHR5 HGNC NCBI

Linked Data

gnomAD v4: 1-196995799-T-C
MyVariant Identifiers: chr1:g.196964929T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995799T>C , CM000663.2:g.196995799T>C GRCh38
NC_000001.10:g.196964929T>C , CM000663.1:g.196964929T>C GRCh37
NC_000001.9:g.195231552T>C NCBI36
NG_016365.1:g.23263T>C , LRG_227:g.23263T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.435T>C ENSP00000514393.1:p.Asn145=
ENST00000699467.1:n.759T>C
ENST00000699468.1:c.-24-315T>C ENSP00000514394.1:n.-24-315T>C
ENST00000256785.5:c.690T>C MANE Select ENSP00000256785.4:p.Asn230=
ENST00000256785.4:c.690T>C ENSP00000256785.4:p.Asn230=
NM_030787.3:c.690T>C , LRG_227t1:c.690T>C NP_110414.1:p.Asn230=
XM_011510020.1:c.699T>C XP_011508322.1:p.Asn233=
XM_011510020.2:c.699T>C XP_011508322.1:p.Asn233=
NM_030787.4:c.690T>C MANE Select NP_110414.1:p.Asn230=
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