Canonical Allele Identifier: CA9129624
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1433256
dbSNP Id: rs756370451
gnomAD v2: 19-6713304-A-G
gnomAD v3: 19-6713293-A-G
gnomAD v4: 19-6713293-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713293A>G , CM000681.2:g.6713293A>G GRCh38
NC_000019.9:g.6713304A>G , CM000681.1:g.6713304A>G GRCh37
NC_000019.8:g.6664304A>G NCBI36
NG_009557.1:g.12359T>C , LRG_27:g.12359T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.776T>C ENSP00000512083.1:p.Val259Ala
ENST00000695654.1:c.23T>C ENSP00000512085.1:p.Val8Ala
ENST00000695692.1:n.223T>C
ENST00000245907.11:c.899T>C MANE Select ENSP00000245907.4:p.Val300Ala
ENST00000245907.10:c.899T>C ENSP00000245907.4:p.Val300Ala
ENST00000594270.5:n.23T>C
ENST00000595577.1:n.403T>C
ENST00000597442.5:n.149T>C
NM_000064.3:c.899T>C NP_000055.2:p.Val300Ala
NM_000064.4:c.899T>C MANE Select NP_000055.2:p.Val300Ala