Canonical Allele Identifier: CA403643093
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1968266
ClinVar RCV Id: RCV002755142
gnomAD v4: 19-6714166-C-T
MyVariant Identifiers: chr19:g.6714177C>T (hg19) chr19:g.6714166C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714166C>T , CM000681.2:g.6714166C>T GRCh38
NC_000019.9:g.6714177C>T , CM000681.1:g.6714177C>T GRCh37
NC_000019.8:g.6665177C>T NCBI36
NG_009557.1:g.11486G>A , LRG_27:g.11486G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.559G>A ENSP00000512083.1:p.Val187Met
ENST00000245907.11:c.682G>A MANE Select ENSP00000245907.4:p.Val228Met
ENST00000245907.10:c.682G>A ENSP00000245907.4:p.Val228Met
ENST00000595577.1:n.186G>A
NM_000064.3:c.682G>A NP_000055.2:p.Val228Met
NM_000064.4:c.682G>A MANE Select NP_000055.2:p.Val228Met
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