Canonical Allele Identifier: CA9128660
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 330291
ClinVar RCV Id: RCV000281154 RCV000320851 RCV000377842 RCV001475689 RCV003950132
dbSNP Id: rs201108539
ExAC: 19:6686258 G / A
gnomAD v2: 19-6686258-G-A
gnomAD v3: 19-6686247-G-A
gnomAD v4: 19-6686247-G-A
COSMIC: COSM1002986
MyVariant Identifiers: chr19:g.6686258G>A (hg19) chr19:g.6686247G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686247G>A , CM000681.2:g.6686247G>A GRCh38
NC_000019.9:g.6686258G>A , CM000681.1:g.6686258G>A GRCh37
NC_000019.8:g.6637258G>A NCBI36
NG_009557.1:g.39405C>T , LRG_27:g.39405C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2035C>T
ENST00000695652.1:c.3564C>T ENSP00000512083.1:p.Asn1188=
ENST00000695653.1:c.1596C>T ENSP00000512084.1:p.Asn532=
ENST00000695654.1:c.2712C>T ENSP00000512085.1:p.Asn904=
ENST00000695655.1:c.2628C>T ENSP00000512086.1:n.2628C>T
ENST00000695692.1:n.3051C>T
ENST00000245907.11:c.3687C>T MANE Select ENSP00000245907.4:p.Asn1229=
ENST00000245907.10:c.3687C>T ENSP00000245907.4:p.Asn1229=
ENST00000596238.1:n.130C>T
ENST00000601008.1:c.241+499C>T ENSP00000471384.1:n.241+499C>T
NM_000064.3:c.3687C>T NP_000055.2:p.Asn1229=
NM_000064.4:c.3687C>T MANE Select NP_000055.2:p.Asn1229=
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