Canonical Allele Identifier: CA403618325
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685019C>G , CM000681.2:g.6685019C>G GRCh38
NC_000019.9:g.6685030C>G , CM000681.1:g.6685030C>G GRCh37
NC_000019.8:g.6636030C>G NCBI36
NG_009557.1:g.40633G>C , LRG_27:g.40633G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2286G>C
ENST00000695653.1:c.1847G>C ENSP00000512084.1:p.Trp616Ser
ENST00000695654.1:c.2963G>C ENSP00000512085.1:p.Trp988Ser
ENST00000695690.1:n.129G>C
ENST00000695691.1:n.129G>C
ENST00000245907.11:c.3938G>C MANE Select ENSP00000245907.4:p.Trp1313Ser
ENST00000245907.10:c.3938G>C ENSP00000245907.4:p.Trp1313Ser
ENST00000596238.1:n.381G>C
ENST00000596548.1:c.20G>C ENSP00000469744.1:p.Trp7Ser
ENST00000601008.1:c.241+1727G>C ENSP00000471384.1:n.241+1727G>C
NM_000064.3:c.3938G>C NP_000055.2:p.Trp1313Ser
NM_000064.4:c.3938G>C MANE Select NP_000055.2:p.Trp1313Ser