Canonical Allele Identifier: CA9128990
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1936580
ClinVar RCV Id: RCV002658053
dbSNP Id: rs750656770
ExAC: 19:6697450 C / T
gnomAD v2: 19-6697450-C-T
gnomAD v3: 19-6697439-C-T
gnomAD v4: 19-6697439-C-T
COSMIC: COSM2727886
MyVariant Identifiers: chr19:g.6697450C>T (hg19) chr19:g.6697439C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697439C>T , CM000681.2:g.6697439C>T GRCh38
NC_000019.9:g.6697450C>T , CM000681.1:g.6697450C>T GRCh37
NC_000019.8:g.6648450C>T NCBI36
NG_009557.1:g.28213G>A , LRG_27:g.28213G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1049G>A
ENST00000695652.1:c.2578G>A ENSP00000512083.1:p.Val860Met
ENST00000695653.1:c.610G>A ENSP00000512084.1:p.Val204Met
ENST00000695654.1:c.1825G>A ENSP00000512085.1:p.Val609Met
ENST00000695655.1:c.1642G>A ENSP00000512086.1:n.1642G>A
ENST00000695692.1:n.2065G>A
ENST00000245907.11:c.2701G>A MANE Select ENSP00000245907.4:p.Val901Met
ENST00000245907.10:c.2701G>A ENSP00000245907.4:p.Val901Met
ENST00000594005.1:n.277G>A
NM_000064.3:c.2701G>A NP_000055.2:p.Val901Met
NM_000064.4:c.2701G>A MANE Select NP_000055.2:p.Val901Met
Search 100 bp 5'
Search 100 bp 3'