Canonical Allele Identifier: CA9129000
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs771671063
gnomAD v2: 19-6697475-G-A
gnomAD v3: 19-6697464-G-A
gnomAD v4: 19-6697464-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697464G>A , CM000681.2:g.6697464G>A GRCh38
NC_000019.9:g.6697475G>A , CM000681.1:g.6697475G>A GRCh37
NC_000019.8:g.6648475G>A NCBI36
NG_009557.1:g.28188C>T , LRG_27:g.28188C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1024C>T
ENST00000695652.1:c.2553C>T ENSP00000512083.1:p.Ser851=
ENST00000695653.1:c.585C>T ENSP00000512084.1:p.Ser195=
ENST00000695654.1:c.1800C>T ENSP00000512085.1:p.Ser600=
ENST00000695655.1:c.1617C>T ENSP00000512086.1:n.1617C>T
ENST00000695692.1:n.2040C>T
ENST00000245907.11:c.2676C>T MANE Select ENSP00000245907.4:p.Ser892=
ENST00000245907.10:c.2676C>T ENSP00000245907.4:p.Ser892=
ENST00000594005.1:n.252C>T
NM_000064.3:c.2676C>T NP_000055.2:p.Ser892=
NM_000064.4:c.2676C>T MANE Select NP_000055.2:p.Ser892=