Canonical Allele Identifier: CA9129670
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2180988
ClinVar RCV Id: RCV002603097
dbSNP Id: rs755985654
gnomAD v2: 19-6713525-G-C
gnomAD v3: 19-6713514-G-C
gnomAD v4: 19-6713514-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713514G>C , CM000681.2:g.6713514G>C GRCh38
NC_000019.9:g.6713525G>C , CM000681.1:g.6713525G>C GRCh37
NC_000019.8:g.6664525G>C NCBI36
NG_009557.1:g.12138C>G , LRG_27:g.12138C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.651-5C>G ENSP00000512083.1:n.651-5C>G
ENST00000695692.1:n.93C>G
ENST00000245907.11:c.774-5C>G MANE Select ENSP00000245907.4:n.774-5C>G
ENST00000245907.10:c.774-5C>G ENSP00000245907.4:n.774-5C>G
ENST00000595577.1:n.278-5C>G
ENST00000597442.5:n.24-5C>G
NM_000064.3:c.774-5C>G NP_000055.2:n.774-5C>G
NM_000064.4:c.774-5C>G MANE Select NP_000055.2:n.774-5C>G