Canonical Allele Identifier: CA14633544
Gene: C3 HGNC NCBI
COSMIC:
COSN6670088 (not active)
MyVariant.info:
GRCh38 chr19:g.6718523T>C
GRCh37 chr19:g.6718534T>C
gnomAD v2:
19:6718534 T / C
gnomAD v3:
19:6718523 T / C
gnomAD v4:
chr19-6718523-T-C
Joint Max Group AF 0.28698612 (NFE)
Genomes Max Group AF 0.27677995 (NFE)
Exomes Max Group AF 0.28755516 (NFE)
ClinVar RCV:
RCV001694369
ClinVar Variation:
1276044
dbSNP:
2250656
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6718523T>C , CM000681.2:g.6718523T>C GRCh38
NC_000019.9:g.6718534T>C , CM000681.1:g.6718534T>C GRCh37
NC_000019.8:g.6669534T>C NCBI36
NG_009557.1:g.7129A>G , LRG_27:g.7129A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000594936.2:n.329-111A>G
ENST00000695652.1:c.145-111A>G ENSP00000512083.1:n.145-111A>G
ENST00000695693.1:c.268-111A>G ENSP00000512104.1:n.268-111A>G
ENST00000245907.11:c.268-111A>G MANE Select ENSP00000245907.4:n.268-111A>G
ENST00000245907.10:c.268-111A>G ENSP00000245907.4:n.268-111A>G
ENST00000594936.1:n.329-111A>G
ENST00000600744.1:c.145-111A>G ENSP00000472044.1:n.145-111A>G
NM_000064.3:c.268-111A>G NP_000055.2:n.268-111A>G
NM_000064.4:c.268-111A>G MANE Select NP_000055.2:n.268-111A>G
Search 100 bp 5'
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