Canonical Allele Identifier: CA403618518
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685106T>C , CM000681.2:g.6685106T>C GRCh38
NC_000019.9:g.6685117T>C , CM000681.1:g.6685117T>C GRCh37
NC_000019.8:g.6636117T>C NCBI36
NG_009557.1:g.40546A>G , LRG_27:g.40546A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2199A>G
ENST00000695653.1:c.1760A>G ENSP00000512084.1:p.Lys587Arg
ENST00000695654.1:c.2876A>G ENSP00000512085.1:p.Lys959Arg
ENST00000695690.1:n.42A>G
ENST00000695691.1:n.42A>G
ENST00000245907.11:c.3851A>G MANE Select ENSP00000245907.4:p.Lys1284Arg
ENST00000245907.10:c.3851A>G ENSP00000245907.4:p.Lys1284Arg
ENST00000596238.1:n.294A>G
ENST00000601008.1:c.241+1640A>G ENSP00000471384.1:n.241+1640A>G
NM_000064.3:c.3851A>G NP_000055.2:p.Lys1284Arg
NM_000064.4:c.3851A>G MANE Select NP_000055.2:p.Lys1284Arg