Canonical Allele Identifier: CA403614598
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6681963-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681963G>C , CM000681.2:g.6681963G>C GRCh38
NC_000019.9:g.6681974G>C , CM000681.1:g.6681974G>C GRCh37
NC_000019.8:g.6632974G>C NCBI36
NG_009557.1:g.43689C>G , LRG_27:g.43689C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2676C>G
ENST00000695653.1:c.2237C>G ENSP00000512084.1:p.Thr746Ser
ENST00000695654.1:c.3353C>G ENSP00000512085.1:p.Thr1118Ser
ENST00000695689.1:c.299C>G ENSP00000512101.1:n.299C>G
ENST00000695690.1:n.519C>G
ENST00000695691.1:n.519C>G
ENST00000245907.11:c.4328C>G MANE Select ENSP00000245907.4:p.Thr1443Ser
ENST00000245907.10:c.4328C>G ENSP00000245907.4:p.Thr1443Ser
ENST00000596548.1:c.449C>G ENSP00000469744.1:p.Thr150Ser
ENST00000599899.5:n.1287C>G
ENST00000601008.1:c.242-4005C>G ENSP00000471384.1:n.242-4005C>G
NM_000064.3:c.4328C>G NP_000055.2:p.Thr1443Ser
NM_000064.4:c.4328C>G MANE Select NP_000055.2:p.Thr1443Ser