Canonical Allele Identifier: CA403642219
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713269A>C , CM000681.2:g.6713269A>C GRCh38
NC_000019.9:g.6713280A>C , CM000681.1:g.6713280A>C GRCh37
NC_000019.8:g.6664280A>C NCBI36
NG_009557.1:g.12383T>G , LRG_27:g.12383T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.800T>G ENSP00000512083.1:p.Leu267Arg
ENST00000695654.1:c.47T>G ENSP00000512085.1:p.Leu16Arg
ENST00000695692.1:n.247T>G
ENST00000245907.11:c.923T>G MANE Select ENSP00000245907.4:p.Leu308Arg
ENST00000245907.10:c.923T>G ENSP00000245907.4:p.Leu308Arg
ENST00000594270.5:n.47T>G
ENST00000595577.1:n.427T>G
ENST00000597442.5:n.173T>G
NM_000064.3:c.923T>G NP_000055.2:p.Leu308Arg
NM_000064.4:c.923T>G MANE Select NP_000055.2:p.Leu308Arg