Canonical Allele Identifier: CA403643146
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1359697
ClinVar RCV Id: RCV001872325
dbSNP Id: rs1327551887
gnomAD v3: 19-6714189-G-A
gnomAD v4: 19-6714189-G-A
COSMIC: COSM5057060
MyVariant Identifiers: chr19:g.6714200G>A (hg19) chr19:g.6714189G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714189G>A , CM000681.2:g.6714189G>A GRCh38
NC_000019.9:g.6714200G>A , CM000681.1:g.6714200G>A GRCh37
NC_000019.8:g.6665200G>A NCBI36
NG_009557.1:g.11463C>T , LRG_27:g.11463C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.536C>T ENSP00000512083.1:p.Thr179Ile
ENST00000245907.11:c.659C>T MANE Select ENSP00000245907.4:p.Thr220Ile
ENST00000245907.10:c.659C>T ENSP00000245907.4:p.Thr220Ile
ENST00000595577.1:n.163C>T
NM_000064.3:c.659C>T NP_000055.2:p.Thr220Ile
NM_000064.4:c.659C>T MANE Select NP_000055.2:p.Thr220Ile
Search 100 bp 5'
Search 100 bp 3'