Canonical Allele Identifier: CA403642527
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713435G>A , CM000681.2:g.6713435G>A GRCh38
NC_000019.9:g.6713446G>A , CM000681.1:g.6713446G>A GRCh37
NC_000019.8:g.6664446G>A NCBI36
NG_009557.1:g.12217C>T , LRG_27:g.12217C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.725C>T ENSP00000512083.1:p.Ser242Phe
ENST00000695692.1:n.172C>T
ENST00000245907.11:c.848C>T MANE Select ENSP00000245907.4:p.Ser283Phe
ENST00000245907.10:c.848C>T ENSP00000245907.4:p.Ser283Phe
ENST00000595577.1:n.352C>T
ENST00000597442.5:n.98C>T
NM_000064.3:c.848C>T NP_000055.2:p.Ser283Phe
NM_000064.4:c.848C>T MANE Select NP_000055.2:p.Ser283Phe