Canonical Allele Identifier: CA403620293
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686284T>A , CM000681.2:g.6686284T>A GRCh38
NC_000019.9:g.6686295T>A , CM000681.1:g.6686295T>A GRCh37
NC_000019.8:g.6637295T>A NCBI36
NG_009557.1:g.39368A>T , LRG_27:g.39368A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1998A>T
ENST00000695652.1:c.3527A>T ENSP00000512083.1:p.Lys1176Met
ENST00000695653.1:c.1559A>T ENSP00000512084.1:p.Lys520Met
ENST00000695654.1:c.2675A>T ENSP00000512085.1:p.Lys892Met
ENST00000695655.1:c.2591A>T ENSP00000512086.1:n.2591A>T
ENST00000695692.1:n.3014A>T
ENST00000245907.11:c.3650A>T MANE Select ENSP00000245907.4:p.Lys1217Met
ENST00000245907.10:c.3650A>T ENSP00000245907.4:p.Lys1217Met
ENST00000596238.1:n.93A>T
ENST00000601008.1:c.241+462A>T ENSP00000471384.1:n.241+462A>T
NM_000064.3:c.3650A>T NP_000055.2:p.Lys1217Met
NM_000064.4:c.3650A>T MANE Select NP_000055.2:p.Lys1217Met