Canonical Allele Identifier: CA403612810
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679464T>G , CM000681.2:g.6679464T>G GRCh38
NC_000019.9:g.6679475T>G , CM000681.1:g.6679475T>G GRCh37
NC_000019.8:g.6630475T>G NCBI36
NG_009557.1:g.46188A>C , LRG_27:g.46188A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2837A>C
ENST00000695653.1:c.2398A>C ENSP00000512084.1:p.Lys800Gln
ENST00000695654.1:c.3514A>C ENSP00000512085.1:p.Lys1172Gln
ENST00000695689.1:c.460A>C ENSP00000512101.1:n.460A>C
ENST00000695690.1:n.1554A>C
ENST00000695691.1:n.1350A>C
ENST00000245907.11:c.4489A>C MANE Select ENSP00000245907.4:p.Lys1497Gln
ENST00000245907.10:c.4489A>C ENSP00000245907.4:p.Lys1497Gln
ENST00000599668.1:n.84A>C
ENST00000599899.5:n.1448A>C
ENST00000601008.1:c.242-1506A>C ENSP00000471384.1:n.242-1506A>C
NM_000064.3:c.4489A>C NP_000055.2:p.Lys1497Gln
NM_000064.4:c.4489A>C MANE Select NP_000055.2:p.Lys1497Gln