Canonical Allele Identifier: CA9129091
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 330307
ClinVar RCV Id: RCV001820993 RCV000303544 RCV000337428 RCV000400746 RCV000957850 RCV002502279
dbSNP Id: rs112178657
ExAC: 19:6702184 G / A
gnomAD v2: 19-6702184-G-A
gnomAD v3: 19-6702173-G-A
gnomAD v4: 19-6702173-G-A
MyVariant Identifiers: chr19:g.6702184G>A (hg19) chr19:g.6702173G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6702173G>A , CM000681.2:g.6702173G>A GRCh38
NC_000019.9:g.6702184G>A , CM000681.1:g.6702184G>A GRCh37
NC_000019.8:g.6653184G>A NCBI36
NG_009557.1:g.23479C>T , LRG_27:g.23479C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.742C>T
ENST00000695652.1:c.2271C>T ENSP00000512083.1:p.Ser757=
ENST00000695653.1:c.303C>T ENSP00000512084.1:p.Ser101=
ENST00000695654.1:c.1518C>T ENSP00000512085.1:p.Ser506=
ENST00000695655.1:c.1335C>T ENSP00000512086.1:n.1335C>T
ENST00000695692.1:n.1758C>T
ENST00000245907.11:c.2394C>T MANE Select ENSP00000245907.4:p.Ser798=
ENST00000245907.10:c.2394C>T ENSP00000245907.4:p.Ser798=
ENST00000602053.1:n.442C>T
NM_000064.3:c.2394C>T NP_000055.2:p.Ser798=
NM_000064.4:c.2394C>T MANE Select NP_000055.2:p.Ser798=
Search 100 bp 5'
Search 100 bp 3'