Canonical Allele Identifier: CA9128995
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs777574436
gnomAD v2: 19-6697465-C-G
gnomAD v3: 19-6697454-C-G
gnomAD v4: 19-6697454-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697454C>G , CM000681.2:g.6697454C>G GRCh38
NC_000019.9:g.6697465C>G , CM000681.1:g.6697465C>G GRCh37
NC_000019.8:g.6648465C>G NCBI36
NG_009557.1:g.28198G>C , LRG_27:g.28198G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1034G>C
ENST00000695652.1:c.2563G>C ENSP00000512083.1:p.Val855Leu
ENST00000695653.1:c.595G>C ENSP00000512084.1:p.Val199Leu
ENST00000695654.1:c.1810G>C ENSP00000512085.1:p.Val604Leu
ENST00000695655.1:c.1627G>C ENSP00000512086.1:n.1627G>C
ENST00000695692.1:n.2050G>C
ENST00000245907.11:c.2686G>C MANE Select ENSP00000245907.4:p.Val896Leu
ENST00000245907.10:c.2686G>C ENSP00000245907.4:p.Val896Leu
ENST00000594005.1:n.262G>C
NM_000064.3:c.2686G>C NP_000055.2:p.Val896Leu
NM_000064.4:c.2686G>C MANE Select NP_000055.2:p.Val896Leu