Canonical Allele Identifier: CA403619546
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686170C>G , CM000681.2:g.6686170C>G GRCh38
NC_000019.9:g.6686181C>G , CM000681.1:g.6686181C>G GRCh37
NC_000019.8:g.6637181C>G NCBI36
NG_009557.1:g.39482G>C , LRG_27:g.39482G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2112G>C
ENST00000695652.1:c.3641G>C ENSP00000512083.1:p.Trp1214Ser
ENST00000695653.1:c.1673G>C ENSP00000512084.1:p.Trp558Ser
ENST00000695654.1:c.2789G>C ENSP00000512085.1:p.Trp930Ser
ENST00000695655.1:c.2705G>C ENSP00000512086.1:n.2705G>C
ENST00000695692.1:n.3128G>C
ENST00000245907.11:c.3764G>C MANE Select ENSP00000245907.4:p.Trp1255Ser
ENST00000245907.10:c.3764G>C ENSP00000245907.4:p.Trp1255Ser
ENST00000596238.1:n.207G>C
ENST00000601008.1:c.241+576G>C ENSP00000471384.1:n.241+576G>C
NM_000064.3:c.3764G>C NP_000055.2:p.Trp1255Ser
NM_000064.4:c.3764G>C MANE Select NP_000055.2:p.Trp1255Ser