Canonical Allele Identifier: CA9129747
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2891573
ClinVar RCV Id: RCV003723021
dbSNP Id: rs201681678
ExAC: 19:6714239 C / T
gnomAD v2: 19-6714239-C-T
gnomAD v3: 19-6714228-C-T
gnomAD v4: 19-6714228-C-T
MyVariant Identifiers: chr19:g.6714239C>T (hg19) chr19:g.6714228C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714228C>T , CM000681.2:g.6714228C>T GRCh38
NC_000019.9:g.6714239C>T , CM000681.1:g.6714239C>T GRCh37
NC_000019.8:g.6665239C>T NCBI36
NG_009557.1:g.11424G>A , LRG_27:g.11424G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.497G>A ENSP00000512083.1:p.Arg166Gln
ENST00000245907.11:c.620G>A MANE Select ENSP00000245907.4:p.Arg207Gln
ENST00000245907.10:c.620G>A ENSP00000245907.4:p.Arg207Gln
ENST00000595577.1:n.124G>A
NM_000064.3:c.620G>A NP_000055.2:p.Arg207Gln
NM_000064.4:c.620G>A MANE Select NP_000055.2:p.Arg207Gln
Search 100 bp 5'
Search 100 bp 3'