Canonical Allele Identifier: CA2320550475
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1917806854
gnomAD v4: 19-6679546-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679546A>C , CM000681.2:g.6679546A>C GRCh38
NC_000019.9:g.6679557A>C , CM000681.1:g.6679557A>C GRCh37
NC_000019.8:g.6630557A>C NCBI36
NG_009557.1:g.46106T>G , LRG_27:g.46106T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2805-50T>G
ENST00000695653.1:c.2366-50T>G ENSP00000512084.1:n.2366-50T>G
ENST00000695654.1:c.3482-50T>G ENSP00000512085.1:n.3482-50T>G
ENST00000695689.1:c.428-50T>G ENSP00000512101.1:n.428-50T>G
ENST00000695690.1:n.1522-50T>G
ENST00000695691.1:n.1318-50T>G
ENST00000245907.11:c.4457-50T>G MANE Select ENSP00000245907.4:n.4457-50T>G
ENST00000245907.10:c.4457-50T>G ENSP00000245907.4:n.4457-50T>G
ENST00000599668.1:n.52-50T>G
ENST00000599899.5:n.1416-50T>G
ENST00000601008.1:c.242-1588T>G ENSP00000471384.1:n.242-1588T>G
NM_000064.3:c.4457-50T>G NP_000055.2:n.4457-50T>G
NM_000064.4:c.4457-50T>G MANE Select NP_000055.2:n.4457-50T>G