Canonical Allele Identifier: CA9128645
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1050379
ClinVar RCV Id: RCV001357738 RCV002499717
dbSNP Id: rs537300095
ExAC: 19:6686191 C / T
gnomAD v2: 19-6686191-C-T
gnomAD v3: 19-6686180-C-T
gnomAD v4: 19-6686180-C-T
MyVariant Identifiers: chr19:g.6686191C>T (hg19) chr19:g.6686180C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686180C>T , CM000681.2:g.6686180C>T GRCh38
NC_000019.9:g.6686191C>T , CM000681.1:g.6686191C>T GRCh37
NC_000019.8:g.6637191C>T NCBI36
NG_009557.1:g.39472G>A , LRG_27:g.39472G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2102G>A
ENST00000695652.1:c.3631G>A ENSP00000512083.1:p.Val1211Ile
ENST00000695653.1:c.1663G>A ENSP00000512084.1:p.Val555Ile
ENST00000695654.1:c.2779G>A ENSP00000512085.1:p.Val927Ile
ENST00000695655.1:c.2695G>A ENSP00000512086.1:n.2695G>A
ENST00000695692.1:n.3118G>A
ENST00000245907.11:c.3754G>A MANE Select ENSP00000245907.4:p.Val1252Ile
ENST00000245907.10:c.3754G>A ENSP00000245907.4:p.Val1252Ile
ENST00000596238.1:n.197G>A
ENST00000601008.1:c.241+566G>A ENSP00000471384.1:n.241+566G>A
NM_000064.3:c.3754G>A NP_000055.2:p.Val1252Ile
NM_000064.4:c.3754G>A MANE Select NP_000055.2:p.Val1252Ile
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