Canonical Allele Identifier: CA403619778
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686207G>C , CM000681.2:g.6686207G>C GRCh38
NC_000019.9:g.6686218G>C , CM000681.1:g.6686218G>C GRCh37
NC_000019.8:g.6637218G>C NCBI36
NG_009557.1:g.39445C>G , LRG_27:g.39445C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2075C>G
ENST00000695652.1:c.3604C>G ENSP00000512083.1:p.Leu1202Val
ENST00000695653.1:c.1636C>G ENSP00000512084.1:p.Leu546Val
ENST00000695654.1:c.2752C>G ENSP00000512085.1:p.Leu918Val
ENST00000695655.1:c.2668C>G ENSP00000512086.1:n.2668C>G
ENST00000695692.1:n.3091C>G
ENST00000245907.11:c.3727C>G MANE Select ENSP00000245907.4:p.Leu1243Val
ENST00000245907.10:c.3727C>G ENSP00000245907.4:p.Leu1243Val
ENST00000596238.1:n.170C>G
ENST00000601008.1:c.241+539C>G ENSP00000471384.1:n.241+539C>G
NM_000064.3:c.3727C>G NP_000055.2:p.Leu1243Val
NM_000064.4:c.3727C>G MANE Select NP_000055.2:p.Leu1243Val