Canonical Allele Identifier: CA9128434
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs752850583
gnomAD v2: 19-6681967-G-C
gnomAD v3: 19-6681956-G-C
gnomAD v4: 19-6681956-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681956G>C , CM000681.2:g.6681956G>C GRCh38
NC_000019.9:g.6681967G>C , CM000681.1:g.6681967G>C GRCh37
NC_000019.8:g.6632967G>C NCBI36
NG_009557.1:g.43696C>G , LRG_27:g.43696C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2683C>G
ENST00000695653.1:c.2244C>G ENSP00000512084.1:p.Ile748Met
ENST00000695654.1:c.3360C>G ENSP00000512085.1:p.Ile1120Met
ENST00000695689.1:c.306C>G ENSP00000512101.1:n.306C>G
ENST00000695690.1:n.526C>G
ENST00000695691.1:n.526C>G
ENST00000245907.11:c.4335C>G MANE Select ENSP00000245907.4:p.Ile1445Met
ENST00000245907.10:c.4335C>G ENSP00000245907.4:p.Ile1445Met
ENST00000596548.1:c.456C>G ENSP00000469744.1:p.Ile152Met
ENST00000599899.5:n.1294C>G
ENST00000601008.1:c.242-3998C>G ENSP00000471384.1:n.242-3998C>G
NM_000064.3:c.4335C>G NP_000055.2:p.Ile1445Met
NM_000064.4:c.4335C>G MANE Select NP_000055.2:p.Ile1445Met