Canonical Allele Identifier: CA884138164
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1488988542
gnomAD v3: 19-6694933-A-G
gnomAD v4: 19-6694933-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6694933A>G , CM000681.2:g.6694933A>G GRCh38
NC_000019.9:g.6694944A>G , CM000681.1:g.6694944A>G GRCh37
NC_000019.8:g.6645944A>G NCBI36
NG_009557.1:g.30719T>C , LRG_27:g.30719T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1299-299T>C
ENST00000695652.1:c.2828-299T>C ENSP00000512083.1:n.2828-299T>C
ENST00000695653.1:c.860-299T>C ENSP00000512084.1:n.860-299T>C
ENST00000695654.1:c.2075-299T>C ENSP00000512085.1:n.2075-299T>C
ENST00000695655.1:c.1892-299T>C ENSP00000512086.1:n.1892-299T>C
ENST00000695692.1:n.2315-299T>C
ENST00000245907.11:c.2951-299T>C MANE Select ENSP00000245907.4:n.2951-299T>C
ENST00000245907.10:c.2951-299T>C ENSP00000245907.4:n.2951-299T>C
NM_000064.3:c.2951-299T>C NP_000055.2:n.2951-299T>C
NM_000064.4:c.2951-299T>C MANE Select NP_000055.2:n.2951-299T>C