Canonical Allele Identifier: CA9128646
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 330290
ClinVar RCV Id: RCV002294278 RCV000287097 RCV000326797 RCV000379168 RCV000972947
dbSNP Id: rs2230209
ExAC: 19:6686192 G / T
gnomAD v2: 19-6686192-G-T
gnomAD v3: 19-6686181-G-T
gnomAD v4: 19-6686181-G-T
MyVariant Identifiers: chr19:g.6686192G>T (hg19) chr19:g.6686181G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686181G>T , CM000681.2:g.6686181G>T GRCh38
NC_000019.9:g.6686192G>T , CM000681.1:g.6686192G>T GRCh37
NC_000019.8:g.6637192G>T NCBI36
NG_009557.1:g.39471C>A , LRG_27:g.39471C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2101C>A
ENST00000695652.1:c.3630C>A ENSP00000512083.1:p.Pro1210=
ENST00000695653.1:c.1662C>A ENSP00000512084.1:p.Pro554=
ENST00000695654.1:c.2778C>A ENSP00000512085.1:p.Pro926=
ENST00000695655.1:c.2694C>A ENSP00000512086.1:n.2694C>A
ENST00000695692.1:n.3117C>A
ENST00000245907.11:c.3753C>A MANE Select ENSP00000245907.4:p.Pro1251=
ENST00000245907.10:c.3753C>A ENSP00000245907.4:p.Pro1251=
ENST00000596238.1:n.196C>A
ENST00000601008.1:c.241+565C>A ENSP00000471384.1:n.241+565C>A
NM_000064.3:c.3753C>A NP_000055.2:p.Pro1251=
NM_000064.4:c.3753C>A MANE Select NP_000055.2:p.Pro1251=
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