Canonical Allele Identifier: CA403639244
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709716G>C , CM000681.2:g.6709716G>C GRCh38
NC_000019.9:g.6709727G>C , CM000681.1:g.6709727G>C GRCh37
NC_000019.8:g.6660727G>C NCBI36
NG_009557.1:g.15936C>G , LRG_27:g.15936C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1690C>G ENSP00000512083.1:p.Leu564Val
ENST00000695654.1:c.937C>G ENSP00000512085.1:p.Leu313Val
ENST00000695655.1:c.754C>G ENSP00000512086.1:n.754C>G
ENST00000695692.1:n.1177C>G
ENST00000245907.11:c.1813C>G MANE Select ENSP00000245907.4:p.Leu605Val
ENST00000245907.10:c.1813C>G ENSP00000245907.4:p.Leu605Val
NM_000064.3:c.1813C>G NP_000055.2:p.Leu605Val
NM_000064.4:c.1813C>G MANE Select NP_000055.2:p.Leu605Val