Canonical Allele Identifier: CA304798210
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs559746063
gnomAD v2: 19-6713585-C-G
gnomAD v3: 19-6713574-C-G
gnomAD v4: 19-6713574-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713574C>G , CM000681.2:g.6713574C>G GRCh38
NC_000019.9:g.6713585C>G , CM000681.1:g.6713585C>G GRCh37
NC_000019.8:g.6664585C>G NCBI36
NG_009557.1:g.12078G>C , LRG_27:g.12078G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.651-65G>C ENSP00000512083.1:n.651-65G>C
ENST00000695692.1:n.33G>C
ENST00000245907.11:c.774-65G>C MANE Select ENSP00000245907.4:n.774-65G>C
ENST00000245907.10:c.774-65G>C ENSP00000245907.4:n.774-65G>C
ENST00000595577.1:n.278-65G>C
ENST00000597442.5:n.24-65G>C
NM_000064.3:c.774-65G>C NP_000055.2:n.774-65G>C
NM_000064.4:c.774-65G>C MANE Select NP_000055.2:n.774-65G>C