Canonical Allele Identifier: CA422802695
Gene: CFHR5 HGNC NCBI

Linked Data

dbSNP Id: rs373158868
gnomAD v3: 1-196995778-A-G
gnomAD v4: 1-196995778-A-G
MyVariant Identifiers: chr1:g.196964908A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995778A>G , CM000663.2:g.196995778A>G GRCh38
NC_000001.10:g.196964908A>G , CM000663.1:g.196964908A>G GRCh37
NC_000001.9:g.195231531A>G NCBI36
NG_016365.1:g.23242A>G , LRG_227:g.23242A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.414A>G ENSP00000514393.1:p.Arg138=
ENST00000699467.1:n.738A>G
ENST00000699468.1:c.-24-336A>G ENSP00000514394.1:n.-24-336A>G
ENST00000256785.5:c.669A>G MANE Select ENSP00000256785.4:p.Arg223=
ENST00000256785.4:c.669A>G ENSP00000256785.4:p.Arg223=
NM_030787.3:c.669A>G , LRG_227t1:c.669A>G NP_110414.1:p.Arg223=
XM_011510020.1:c.678A>G XP_011508322.1:p.Arg226=
XM_011510020.2:c.678A>G XP_011508322.1:p.Arg226=
NM_030787.4:c.669A>G MANE Select NP_110414.1:p.Arg223=
Search 100 bp 5'
Search 100 bp 3'