Canonical Allele Identifier: CA403642156
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713242T>G , CM000681.2:g.6713242T>G GRCh38
NC_000019.9:g.6713253T>G , CM000681.1:g.6713253T>G GRCh37
NC_000019.8:g.6664253T>G NCBI36
NG_009557.1:g.12410A>C , LRG_27:g.12410A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.827A>C ENSP00000512083.1:p.Glu276Ala
ENST00000695654.1:c.74A>C ENSP00000512085.1:p.Glu25Ala
ENST00000695692.1:n.274A>C
ENST00000245907.11:c.950A>C MANE Select ENSP00000245907.4:p.Glu317Ala
ENST00000245907.10:c.950A>C ENSP00000245907.4:p.Glu317Ala
ENST00000594270.5:n.74A>C
ENST00000595577.1:n.454A>C
ENST00000597442.5:n.200A>C
NM_000064.3:c.950A>C NP_000055.2:p.Glu317Ala
NM_000064.4:c.950A>C MANE Select NP_000055.2:p.Glu317Ala