Canonical Allele Identifier: CA9128974
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1895650
ClinVar RCV Id: RCV002571727
dbSNP Id: rs754898374
ExAC: 19:6697357 C / T
gnomAD v2: 19-6697357-C-T
gnomAD v3: 19-6697346-C-T
gnomAD v4: 19-6697346-C-T
COSMIC: COSM1002997
MyVariant Identifiers: chr19:g.6697357C>T (hg19) chr19:g.6697346C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697346C>T , CM000681.2:g.6697346C>T GRCh38
NC_000019.9:g.6697357C>T , CM000681.1:g.6697357C>T GRCh37
NC_000019.8:g.6648357C>T NCBI36
NG_009557.1:g.28306G>A , LRG_27:g.28306G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1142G>A
ENST00000695652.1:c.2671G>A ENSP00000512083.1:p.Val891Met
ENST00000695653.1:c.703G>A ENSP00000512084.1:p.Val235Met
ENST00000695654.1:c.1918G>A ENSP00000512085.1:p.Val640Met
ENST00000695655.1:c.1735G>A ENSP00000512086.1:n.1735G>A
ENST00000695692.1:n.2158G>A
ENST00000245907.11:c.2794G>A MANE Select ENSP00000245907.4:p.Val932Met
ENST00000245907.10:c.2794G>A ENSP00000245907.4:p.Val932Met
ENST00000594005.1:n.370G>A
NM_000064.3:c.2794G>A NP_000055.2:p.Val932Met
NM_000064.4:c.2794G>A MANE Select NP_000055.2:p.Val932Met
Search 100 bp 5'
Search 100 bp 3'