Canonical Allele Identifier: CA9128749
Gene: C3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.6690760C>T
GRCh37 chr19:g.6690771C>T
gnomAD v2:
19:6690771 C / T
gnomAD v3:
19:6690760 C / T
gnomAD v4:
chr19-6690760-C-T
Joint Max Group AF 0.12500793 (NFE)
Genomes Max Group AF 0.12332494 (NFE)
Exomes Max Group AF 0.12499053 (NFE)
ClinVar RCV:
RCV001615848
ClinVar Variation:
1226583
dbSNP:
3745567
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6690760C>T , CM000681.2:g.6690760C>T GRCh38
NC_000019.9:g.6690771C>T , CM000681.1:g.6690771C>T GRCh37
NC_000019.8:g.6641771C>T NCBI36
NG_009557.1:g.34892G>A , LRG_27:g.34892G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1739-33G>A
ENST00000695652.1:c.3268-33G>A ENSP00000512083.1:n.3268-33G>A
ENST00000695653.1:c.1300-33G>A ENSP00000512084.1:n.1300-33G>A
ENST00000695654.1:c.2514+2164G>A ENSP00000512085.1:n.2514+2164G>A
ENST00000695655.1:c.2332-33G>A ENSP00000512086.1:n.2332-33G>A
ENST00000695692.1:n.2755-33G>A
ENST00000245907.11:c.3391-33G>A MANE Select ENSP00000245907.4:n.3391-33G>A
ENST00000245907.10:c.3391-33G>A ENSP00000245907.4:n.3391-33G>A
ENST00000598805.2:n.161-33G>A
NM_000064.3:c.3391-33G>A NP_000055.2:n.3391-33G>A
NM_000064.4:c.3391-33G>A MANE Select NP_000055.2:n.3391-33G>A
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