Canonical Allele Identifier: CA9129066
Gene: C3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.6697818G>C
GRCh37 chr19:g.6697829G>C
gnomAD v2:
19:6697829 G / C
gnomAD v3:
19:6697818 G / C
gnomAD v4:
chr19-6697818-G-C
Joint Max Group AF 0.00007677 (NFE)
Genomes Max Group AF 0.0000285 (NFE)
Exomes Max Group AF 0.00007706 (NFE)
dbSNP:
366510
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697818G>C , CM000681.2:g.6697818G>C GRCh38
NC_000019.9:g.6697829G>C , CM000681.1:g.6697829G>C GRCh37
NC_000019.8:g.6648829G>C NCBI36
NG_009557.1:g.27834C>G , LRG_27:g.27834C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.789-24C>G
ENST00000695652.1:c.2318-24C>G ENSP00000512083.1:n.2318-24C>G
ENST00000695653.1:c.350-24C>G ENSP00000512084.1:n.350-24C>G
ENST00000695654.1:c.1565-24C>G ENSP00000512085.1:n.1565-24C>G
ENST00000695655.1:c.1382-24C>G ENSP00000512086.1:n.1382-24C>G
ENST00000695692.1:n.1805-24C>G
ENST00000245907.11:c.2441-24C>G MANE Select ENSP00000245907.4:n.2441-24C>G
ENST00000245907.10:c.2441-24C>G ENSP00000245907.4:n.2441-24C>G
ENST00000602053.1:n.489-24C>G
NM_000064.3:c.2441-24C>G NP_000055.2:n.2441-24C>G
NM_000064.4:c.2441-24C>G MANE Select NP_000055.2:n.2441-24C>G
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