Canonical Allele Identifier: CA403628678
Community Standard Title: NM_000064.4(C3):c.3085G>A (p.Asp1029Asn)
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6694500C>T , CM000681.2:g.6694500C>T GRCh38
NC_000019.9:g.6694511C>T , CM000681.1:g.6694511C>T GRCh37
NC_000019.8:g.6645511C>T NCBI36
NG_009557.1:g.31152G>A , LRG_27:g.31152G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.3085G>A MANE Select NP_000055.2:p.Asp1029Asn
ENST00000245907.11:c.3085G>A MANE Select ENSP00000245907.4:p.Asp1029Asn
NM_000064.3:c.3085G>A NP_000055.2:p.Asp1029Asn
ENST00000245907.10:c.3085G>A ENSP00000245907.4:p.Asp1029Asn
ENST00000695651.1:n.1433G>A
ENST00000695652.1:c.2962G>A ENSP00000512083.1:p.Asp988Asn
ENST00000695653.1:c.994G>A ENSP00000512084.1:p.Asp332Asn
ENST00000695654.1:c.2209G>A ENSP00000512085.1:p.Asp737Asn
ENST00000695655.1:c.2026G>A ENSP00000512086.1:n.2026G>A
ENST00000695692.1:n.2449G>A