Canonical Allele Identifier: CA9128717
Gene: C3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.6690602T>G
GRCh37 chr19:g.6690613T>G
gnomAD v2:
19:6690613 T / G
gnomAD v3:
19:6690602 T / G
gnomAD v4:
chr19-6690602-T-G
Joint Max Group AF 0.11500364 (NFE)
Genomes Max Group AF 0.11190962 (NFE)
Exomes Max Group AF 0.1150811 (NFE)
ClinVar RCV:
RCV001596194
ClinVar Variation:
1223254
dbSNP:
3745568
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6690602T>G , CM000681.2:g.6690602T>G GRCh38
NC_000019.9:g.6690613T>G , CM000681.1:g.6690613T>G GRCh37
NC_000019.8:g.6641613T>G NCBI36
NG_009557.1:g.35050A>C , LRG_27:g.35050A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1837+27A>C
ENST00000695652.1:c.3366+27A>C ENSP00000512083.1:n.3366+27A>C
ENST00000695653.1:c.1398+27A>C ENSP00000512084.1:n.1398+27A>C
ENST00000695654.1:c.2514+2322A>C ENSP00000512085.1:n.2514+2322A>C
ENST00000695655.1:c.2430+27A>C ENSP00000512086.1:n.2430+27A>C
ENST00000695692.1:n.2853+27A>C
ENST00000245907.11:c.3489+27A>C MANE Select ENSP00000245907.4:n.3489+27A>C
ENST00000245907.10:c.3489+27A>C ENSP00000245907.4:n.3489+27A>C
ENST00000598805.2:n.259+27A>C
ENST00000601008.1:c.84+27A>C ENSP00000471384.1:n.84+27A>C
NM_000064.3:c.3489+27A>C NP_000055.2:n.3489+27A>C
NM_000064.4:c.3489+27A>C MANE Select NP_000055.2:n.3489+27A>C
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