Canonical Allele Identifier: CA9129620
Gene: C3 HGNC NCBI
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713280C>T , CM000681.2:g.6713280C>T GRCh38
NC_000019.9:g.6713291C>T , CM000681.1:g.6713291C>T GRCh37
NC_000019.8:g.6664291C>T NCBI36
NG_009557.1:g.12372G>A , LRG_27:g.12372G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.789G>A ENSP00000512083.1:p.Arg263=
ENST00000695654.1:c.36G>A ENSP00000512085.1:p.Arg12=
ENST00000695692.1:n.236G>A
ENST00000245907.11:c.912G>A MANE Select ENSP00000245907.4:p.Arg304=
ENST00000245907.10:c.912G>A ENSP00000245907.4:p.Arg304=
ENST00000594270.5:n.36G>A
ENST00000595577.1:n.416G>A
ENST00000597442.5:n.162G>A
NM_000064.3:c.912G>A NP_000055.2:p.Arg304=
NM_000064.4:c.912G>A MANE Select NP_000055.2:p.Arg304=