Canonical Allele Identifier: CA304797281
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs186796344
gnomAD v3: 19-6712809-C-G
gnomAD v4: 19-6712809-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6712809C>G , CM000681.2:g.6712809C>G GRCh38
NC_000019.9:g.6712820C>G , CM000681.1:g.6712820C>G GRCh37
NC_000019.8:g.6663820C>G NCBI36
NG_009557.1:g.12843G>C , LRG_27:g.12843G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.881-186G>C ENSP00000512083.1:n.881-186G>C
ENST00000695654.1:c.128-186G>C ENSP00000512085.1:n.128-186G>C
ENST00000695692.1:n.328-146G>C
ENST00000245907.11:c.1004-186G>C MANE Select ENSP00000245907.4:n.1004-186G>C
ENST00000245907.10:c.1004-186G>C ENSP00000245907.4:n.1004-186G>C
ENST00000594270.5:n.128-207G>C
ENST00000595577.1:n.508-186G>C
ENST00000597442.5:n.254-186G>C
NM_000064.3:c.1004-186G>C NP_000055.2:n.1004-186G>C
NM_000064.4:c.1004-186G>C MANE Select NP_000055.2:n.1004-186G>C