Canonical Allele Identifier: CA993073848
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1967500269
gnomAD v3: 19-6694952-G-A
gnomAD v4: 19-6694952-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6694952G>A , CM000681.2:g.6694952G>A GRCh38
NC_000019.9:g.6694963G>A , CM000681.1:g.6694963G>A GRCh37
NC_000019.8:g.6645963G>A NCBI36
NG_009557.1:g.30700C>T , LRG_27:g.30700C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1299-318C>T
ENST00000695652.1:c.2828-318C>T ENSP00000512083.1:n.2828-318C>T
ENST00000695653.1:c.860-318C>T ENSP00000512084.1:n.860-318C>T
ENST00000695654.1:c.2075-318C>T ENSP00000512085.1:n.2075-318C>T
ENST00000695655.1:c.1892-318C>T ENSP00000512086.1:n.1892-318C>T
ENST00000695692.1:n.2315-318C>T
ENST00000245907.11:c.2951-318C>T MANE Select ENSP00000245907.4:n.2951-318C>T
ENST00000245907.10:c.2951-318C>T ENSP00000245907.4:n.2951-318C>T
NM_000064.3:c.2951-318C>T NP_000055.2:n.2951-318C>T
NM_000064.4:c.2951-318C>T MANE Select NP_000055.2:n.2951-318C>T